SNP Links for Protein (Select 566559839) - SNP

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Links from Protein

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Select item 14912999631.

rs1491299963 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:50447143 (GRCh38)
7:50514842 (GRCh37)
Canonical SPDI:: NC_000007.14:50447143:A:AA
Gene:: FIGNL1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.50447144dup, NC_000007.13:g.50514842dup, NG_051949.1:g.8263dup, NM_022116.7:c.144dup, NM_022116.6:c.144dup, NM_022116.5:c.144dup, NM_022116.4:c.144dup, NM_022116.3:c.144dup, NM_001042762.5:c.144dup, NM_001042762.4:c.144dup, NM_001042762.3:c.144dup, NM_001042762.2:c.144dup, NM_001042762.1:c.144dup, NM_001287492.4:c.144dup, NM_001287492.3:c.144dup, NM_001287492.2:c.144dup, NM_001287492.1:c.144dup, NM_001287494.4:c.144dup, NM_001287494.3:c.144dup, NM_001287494.2:c.144dup, NM_001287494.1:c.144dup, NM_001287496.4:c.-75dup, NM_001287496.3:c.-75dup, NM_001287496.2:c.-75dup, NM_001287496.1:c.-75dup, NM_001346565.3:c.144dup, NM_001346565.2:c.144dup, NM_001346565.1:c.144dup, NM_001346558.3:c.-75dup, NM_001346558.2:c.-75dup, NM_001346558.1:c.-75dup, NM_001346563.3:c.144dup, NM_001346563.2:c.144dup, NM_001346563.1:c.144dup, NM_001346560.3:c.144dup, NM_001346560.2:c.144dup, NM_001346560.1:c.144dup, NM_001346559.3:c.-75dup, NM_001346559.2:c.-75dup, NM_001346559.1:c.-75dup, NM_001346564.3:c.144dup, NM_001346564.2:c.144dup, NM_001346564.1:c.144dup, NM_001346561.3:c.144dup, NM_001346561.2:c.144dup, NM_001346561.1:c.144dup, NM_001346562.3:c.144dup, NM_001346562.2:c.144dup, NM_001346562.1:c.144dup, NM_001287493.3:c.144dup, NM_001287493.2:c.144dup, NM_001287493.1:c.144dup, NM_001287495.3:c.144dup, NM_001287495.2:c.144dup, NM_001287495.1:c.144dup, XM_011515470.4:c.144dup, XM_011515470.3:c.144dup, XM_011515470.2:c.144dup, XM_011515470.1:c.144dup, XM_017012501.2:c.144dup, XM_017012501.1:c.144dup, XM_024446864.2:c.144dup, XM_024446864.1:c.144dup, XM_024446863.2:c.144dup, XM_024446863.1:c.144dup, XM_024446865.2:c.144dup, XM_024446865.1:c.144dup, XM_047420693.1:c.144dup, NP_071399.2:p.Glu49Ter, NP_001036227.1:p.Glu49Ter, NP_001274421.1:p.Glu49Ter, NP_001274423.1:p.Glu49Ter, NP_001333494.1:p.Glu49Ter, NP_001333492.1:p.Glu49Ter, NP_001333489.1:p.Glu49Ter, NP_001333493.1:p.Glu49Ter, NP_001333490.1:p.Glu49Ter, NP_001333491.1:p.Glu49Ter, NP_001274422.1:p.Glu49Ter, NP_001274424.1:p.Glu49Ter, XP_011513772.1:p.Glu49Ter, XP_016867990.1:p.Glu49Ter, XP_024302632.1:p.Glu49Ter, XP_024302631.1:p.Glu49Ter, XP_024302633.1:p.Glu49Ter, XP_047276649.1:p.Glu49Ter

Select item 14911866942.

rs1491186694 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:50447143 (GRCh38)
7:50514841 (GRCh37)
Canonical SPDI:: NC_000007.14:50447142:CA:
Gene:: FIGNL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.50447143_50447144del, NC_000007.13:g.50514841_50514842del, NG_051949.1:g.8263_8264del, NM_022116.7:c.144_145del, NM_022116.6:c.144_145del, NM_022116.5:c.144_145del, NM_022116.4:c.144_145del, NM_022116.3:c.144_145del, NM_001042762.5:c.144_145del, NM_001042762.4:c.144_145del, NM_001042762.3:c.144_145del, NM_001042762.2:c.144_145del, NM_001042762.1:c.144_145del, NM_001287492.4:c.144_145del, NM_001287492.3:c.144_145del, NM_001287492.2:c.144_145del, NM_001287492.1:c.144_145del, NM_001287494.4:c.144_145del, NM_001287494.3:c.144_145del, NM_001287494.2:c.144_145del, NM_001287494.1:c.144_145del, NM_001287496.4:c.-75_-74del, NM_001287496.3:c.-75_-74del, NM_001287496.2:c.-75_-74del, NM_001287496.1:c.-75_-74del, NM_001346565.3:c.144_145del, NM_001346565.2:c.144_145del, NM_001346565.1:c.144_145del, NM_001346558.3:c.-75_-74del, NM_001346558.2:c.-75_-74del, NM_001346558.1:c.-75_-74del, NM_001346563.3:c.144_145del, NM_001346563.2:c.144_145del, NM_001346563.1:c.144_145del, NM_001346560.3:c.144_145del, NM_001346560.2:c.144_145del, NM_001346560.1:c.144_145del, NM_001346559.3:c.-75_-74del, NM_001346559.2:c.-75_-74del, NM_001346559.1:c.-75_-74del, NM_001346564.3:c.144_145del, NM_001346564.2:c.144_145del, NM_001346564.1:c.144_145del, NM_001346561.3:c.144_145del, NM_001346561.2:c.144_145del, NM_001346561.1:c.144_145del, NM_001346562.3:c.144_145del, NM_001346562.2:c.144_145del, NM_001346562.1:c.144_145del, NM_001287493.3:c.144_145del, NM_001287493.2:c.144_145del, NM_001287493.1:c.144_145del, NM_001287495.3:c.144_145del, NM_001287495.2:c.144_145del, NM_001287495.1:c.144_145del, XM_011515470.4:c.144_145del, XM_011515470.3:c.144_145del, XM_011515470.2:c.144_145del, XM_011515470.1:c.144_145del, XM_017012501.2:c.144_145del, XM_017012501.1:c.144_145del, XM_024446864.2:c.144_145del, XM_024446864.1:c.144_145del, XM_024446863.2:c.144_145del, XM_024446863.1:c.144_145del, XM_024446865.2:c.144_145del, XM_024446865.1:c.144_145del, XM_047420693.1:c.144_145del, NP_071399.2:p.Glu49fs, NP_001036227.1:p.Glu49fs, NP_001274421.1:p.Glu49fs, NP_001274423.1:p.Glu49fs, NP_001333494.1:p.Glu49fs, NP_001333492.1:p.Glu49fs, NP_001333489.1:p.Glu49fs, NP_001333493.1:p.Glu49fs, NP_001333490.1:p.Glu49fs, NP_001333491.1:p.Glu49fs, NP_001274422.1:p.Glu49fs, NP_001274424.1:p.Glu49fs, XP_011513772.1:p.Glu49fs, XP_016867990.1:p.Glu49fs, XP_024302632.1:p.Glu49fs, XP_024302631.1:p.Glu49fs, XP_024302633.1:p.Glu49fs, XP_047276649.1:p.Glu49fs

Select item 14879972603.

rs1487997260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:50446512 (GRCh38)
7:50514210 (GRCh37)
Canonical SPDI:: NC_000007.14:50446511:G:T
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.50446512G>T, NC_000007.13:g.50514210G>T, NG_051949.1:g.8895C>A, NM_022116.7:c.776C>A, NM_022116.6:c.776C>A, NM_022116.5:c.776C>A, NM_022116.4:c.776C>A, NM_022116.3:c.776C>A, NM_001042762.5:c.776C>A, NM_001042762.4:c.776C>A, NM_001042762.3:c.776C>A, NM_001042762.2:c.776C>A, NM_001042762.1:c.776C>A, NM_001287492.4:c.776C>A, NM_001287492.3:c.776C>A, NM_001287492.2:c.776C>A, NM_001287492.1:c.776C>A, NM_001287494.4:c.776C>A, NM_001287494.3:c.776C>A, NM_001287494.2:c.776C>A, NM_001287494.1:c.776C>A, NM_001287496.4:c.443C>A, NM_001287496.3:c.443C>A, NM_001287496.2:c.443C>A, NM_001287496.1:c.443C>A, NM_001346565.3:c.776C>A, NM_001346565.2:c.776C>A, NM_001346565.1:c.776C>A, NM_001346558.3:c.443C>A, NM_001346558.2:c.443C>A, NM_001346558.1:c.443C>A, NM_001346563.3:c.776C>A, NM_001346563.2:c.776C>A, NM_001346563.1:c.776C>A, NM_001346560.3:c.776C>A, NM_001346560.2:c.776C>A, NM_001346560.1:c.776C>A, NM_001346559.3:c.443C>A, NM_001346559.2:c.443C>A, NM_001346559.1:c.443C>A, NM_001346564.3:c.776C>A, NM_001346564.2:c.776C>A, NM_001346564.1:c.776C>A, NM_001346561.3:c.776C>A, NM_001346561.2:c.776C>A, NM_001346561.1:c.776C>A, NM_001346562.3:c.776C>A, NM_001346562.2:c.776C>A, NM_001346562.1:c.776C>A, NM_001287493.3:c.776C>A, NM_001287493.2:c.776C>A, NM_001287493.1:c.776C>A, NM_001287495.3:c.776C>A, NM_001287495.2:c.776C>A, NM_001287495.1:c.776C>A, XM_011515470.4:c.776C>A, XM_011515470.3:c.776C>A, XM_011515470.2:c.776C>A, XM_011515470.1:c.776C>A, XM_017012501.2:c.776C>A, XM_017012501.1:c.776C>A, XM_024446864.2:c.776C>A, XM_024446864.1:c.776C>A, XM_024446863.2:c.776C>A, XM_024446863.1:c.776C>A, XM_024446865.2:c.776C>A, XM_024446865.1:c.776C>A, XM_047420693.1:c.776C>A, NP_071399.2:p.Ser259Tyr, NP_001036227.1:p.Ser259Tyr, NP_001274421.1:p.Ser259Tyr, NP_001274423.1:p.Ser259Tyr, NP_001274425.1:p.Ser148Tyr, NP_001333494.1:p.Ser259Tyr, NP_001333487.1:p.Ser148Tyr, NP_001333492.1:p.Ser259Tyr, NP_001333489.1:p.Ser259Tyr, NP_001333488.1:p.Ser148Tyr, NP_001333493.1:p.Ser259Tyr, NP_001333490.1:p.Ser259Tyr, NP_001333491.1:p.Ser259Tyr, NP_001274422.1:p.Ser259Tyr, NP_001274424.1:p.Ser259Tyr, XP_011513772.1:p.Ser259Tyr, XP_016867990.1:p.Ser259Tyr, XP_024302632.1:p.Ser259Tyr, XP_024302631.1:p.Ser259Tyr, XP_024302633.1:p.Ser259Tyr, XP_047276649.1:p.Ser259Tyr

Select item 14835727634.

rs1483572763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:50445805 (GRCh38)
7:50513503 (GRCh37)
Canonical SPDI:: NC_000007.14:50445804:C:G
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.50445805C>G, NC_000007.13:g.50513503C>G, NG_051949.1:g.9602G>C, NM_022116.7:c.1483G>C, NM_022116.6:c.1483G>C, NM_022116.5:c.1483G>C, NM_022116.4:c.1483G>C, NM_022116.3:c.1483G>C, NM_001042762.5:c.1483G>C, NM_001042762.4:c.1483G>C, NM_001042762.3:c.1483G>C, NM_001042762.2:c.1483G>C, NM_001042762.1:c.1483G>C, NM_001287492.4:c.1483G>C, NM_001287492.3:c.1483G>C, NM_001287492.2:c.1483G>C, NM_001287492.1:c.1483G>C, NM_001287494.4:c.1483G>C, NM_001287494.3:c.1483G>C, NM_001287494.2:c.1483G>C, NM_001287494.1:c.1483G>C, NM_001287496.4:c.1150G>C, NM_001287496.3:c.1150G>C, NM_001287496.2:c.1150G>C, NM_001287496.1:c.1150G>C, NM_001346565.3:c.1483G>C, NM_001346565.2:c.1483G>C, NM_001346565.1:c.1483G>C, NM_001346558.3:c.1150G>C, NM_001346558.2:c.1150G>C, NM_001346558.1:c.1150G>C, NM_001346563.3:c.1483G>C, NM_001346563.2:c.1483G>C, NM_001346563.1:c.1483G>C, NM_001346560.3:c.1483G>C, NM_001346560.2:c.1483G>C, NM_001346560.1:c.1483G>C, NM_001346559.3:c.1150G>C, NM_001346559.2:c.1150G>C, NM_001346559.1:c.1150G>C, NM_001346564.3:c.1483G>C, NM_001346564.2:c.1483G>C, NM_001346564.1:c.1483G>C, NM_001346561.3:c.1483G>C, NM_001346561.2:c.1483G>C, NM_001346561.1:c.1483G>C, NM_001346562.3:c.1483G>C, NM_001346562.2:c.1483G>C, NM_001346562.1:c.1483G>C, NM_001287493.3:c.1483G>C, NM_001287493.2:c.1483G>C, NM_001287493.1:c.1483G>C, NM_001287495.3:c.1483G>C, NM_001287495.2:c.1483G>C, NM_001287495.1:c.1483G>C, XM_011515470.4:c.1483G>C, XM_011515470.3:c.1483G>C, XM_011515470.2:c.1483G>C, XM_011515470.1:c.1483G>C, XM_017012501.2:c.1483G>C, XM_017012501.1:c.1483G>C, XM_024446864.2:c.1483G>C, XM_024446864.1:c.1483G>C, XM_024446863.2:c.1483G>C, XM_024446863.1:c.1483G>C, XM_024446865.2:c.1483G>C, XM_024446865.1:c.1483G>C, XM_047420693.1:c.1483G>C, NP_071399.2:p.Ala495Pro, NP_001036227.1:p.Ala495Pro, NP_001274421.1:p.Ala495Pro, NP_001274423.1:p.Ala495Pro, NP_001274425.1:p.Ala384Pro, NP_001333494.1:p.Ala495Pro, NP_001333487.1:p.Ala384Pro, NP_001333492.1:p.Ala495Pro, NP_001333489.1:p.Ala495Pro, NP_001333488.1:p.Ala384Pro, NP_001333493.1:p.Ala495Pro, NP_001333490.1:p.Ala495Pro, NP_001333491.1:p.Ala495Pro, NP_001274422.1:p.Ala495Pro, NP_001274424.1:p.Ala495Pro, XP_011513772.1:p.Ala495Pro, XP_016867990.1:p.Ala495Pro, XP_024302632.1:p.Ala495Pro, XP_024302631.1:p.Ala495Pro, XP_024302633.1:p.Ala495Pro, XP_047276649.1:p.Ala495Pro

Select item 14769510995.

rs1476951099 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:50447227 (GRCh38)
7:50514925 (GRCh37)
Canonical SPDI:: NC_000007.14:50447226:T:C
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.50447227T>C, NC_000007.13:g.50514925T>C, NG_051949.1:g.8180A>G, NM_022116.7:c.61A>G, NM_022116.6:c.61A>G, NM_022116.5:c.61A>G, NM_022116.4:c.61A>G, NM_022116.3:c.61A>G, NM_001042762.5:c.61A>G, NM_001042762.4:c.61A>G, NM_001042762.3:c.61A>G, NM_001042762.2:c.61A>G, NM_001042762.1:c.61A>G, NM_001287492.4:c.61A>G, NM_001287492.3:c.61A>G, NM_001287492.2:c.61A>G, NM_001287492.1:c.61A>G, NM_001287494.4:c.61A>G, NM_001287494.3:c.61A>G, NM_001287494.2:c.61A>G, NM_001287494.1:c.61A>G, NM_001287496.4:c.-158A>G, NM_001287496.3:c.-158A>G, NM_001287496.2:c.-158A>G, NM_001287496.1:c.-158A>G, NM_001346565.3:c.61A>G, NM_001346565.2:c.61A>G, NM_001346565.1:c.61A>G, NM_001346558.3:c.-158A>G, NM_001346558.2:c.-158A>G, NM_001346558.1:c.-158A>G, NM_001346563.3:c.61A>G, NM_001346563.2:c.61A>G, NM_001346563.1:c.61A>G, NM_001346560.3:c.61A>G, NM_001346560.2:c.61A>G, NM_001346560.1:c.61A>G, NM_001346559.3:c.-158A>G, NM_001346559.2:c.-158A>G, NM_001346559.1:c.-158A>G, NM_001346564.3:c.61A>G, NM_001346564.2:c.61A>G, NM_001346564.1:c.61A>G, NM_001346561.3:c.61A>G, NM_001346561.2:c.61A>G, NM_001346561.1:c.61A>G, NM_001346562.3:c.61A>G, NM_001346562.2:c.61A>G, NM_001346562.1:c.61A>G, NM_001287493.3:c.61A>G, NM_001287493.2:c.61A>G, NM_001287493.1:c.61A>G, NM_001287495.3:c.61A>G, NM_001287495.2:c.61A>G, NM_001287495.1:c.61A>G, XM_011515470.4:c.61A>G, XM_011515470.3:c.61A>G, XM_011515470.2:c.61A>G, XM_011515470.1:c.61A>G, XM_017012501.2:c.61A>G, XM_017012501.1:c.61A>G, XM_024446864.2:c.61A>G, XM_024446864.1:c.61A>G, XM_024446863.2:c.61A>G, XM_024446863.1:c.61A>G, XM_024446865.2:c.61A>G, XM_024446865.1:c.61A>G, XM_047420693.1:c.61A>G, NP_071399.2:p.Ile21Val, NP_001036227.1:p.Ile21Val, NP_001274421.1:p.Ile21Val, NP_001274423.1:p.Ile21Val, NP_001333494.1:p.Ile21Val, NP_001333492.1:p.Ile21Val, NP_001333489.1:p.Ile21Val, NP_001333493.1:p.Ile21Val, NP_001333490.1:p.Ile21Val, NP_001333491.1:p.Ile21Val, NP_001274422.1:p.Ile21Val, NP_001274424.1:p.Ile21Val, XP_011513772.1:p.Ile21Val, XP_016867990.1:p.Ile21Val, XP_024302632.1:p.Ile21Val, XP_024302631.1:p.Ile21Val, XP_024302633.1:p.Ile21Val, XP_047276649.1:p.Ile21Val

Select item 14767289806.

rs1476728980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:50445718 (GRCh38)
7:50513416 (GRCh37)
Canonical SPDI:: NC_000007.14:50445717:A:T
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.50445718A>T, NC_000007.13:g.50513416A>T, NG_051949.1:g.9689T>A, NM_022116.7:c.1570T>A, NM_022116.6:c.1570T>A, NM_022116.5:c.1570T>A, NM_022116.4:c.1570T>A, NM_022116.3:c.1570T>A, NM_001042762.5:c.1570T>A, NM_001042762.4:c.1570T>A, NM_001042762.3:c.1570T>A, NM_001042762.2:c.1570T>A, NM_001042762.1:c.1570T>A, NM_001287492.4:c.1570T>A, NM_001287492.3:c.1570T>A, NM_001287492.2:c.1570T>A, NM_001287492.1:c.1570T>A, NM_001287494.4:c.1570T>A, NM_001287494.3:c.1570T>A, NM_001287494.2:c.1570T>A, NM_001287494.1:c.1570T>A, NM_001287496.4:c.1237T>A, NM_001287496.3:c.1237T>A, NM_001287496.2:c.1237T>A, NM_001287496.1:c.1237T>A, NM_001346565.3:c.1570T>A, NM_001346565.2:c.1570T>A, NM_001346565.1:c.1570T>A, NM_001346558.3:c.1237T>A, NM_001346558.2:c.1237T>A, NM_001346558.1:c.1237T>A, NM_001346563.3:c.1570T>A, NM_001346563.2:c.1570T>A, NM_001346563.1:c.1570T>A, NM_001346560.3:c.1570T>A, NM_001346560.2:c.1570T>A, NM_001346560.1:c.1570T>A, NM_001346559.3:c.1237T>A, NM_001346559.2:c.1237T>A, NM_001346559.1:c.1237T>A, NM_001346564.3:c.1570T>A, NM_001346564.2:c.1570T>A, NM_001346564.1:c.1570T>A, NM_001346561.3:c.1570T>A, NM_001346561.2:c.1570T>A, NM_001346561.1:c.1570T>A, NM_001346562.3:c.1570T>A, NM_001346562.2:c.1570T>A, NM_001346562.1:c.1570T>A, NM_001287493.3:c.1570T>A, NM_001287493.2:c.1570T>A, NM_001287493.1:c.1570T>A, NM_001287495.3:c.1570T>A, NM_001287495.2:c.1570T>A, NM_001287495.1:c.1570T>A, XM_011515470.4:c.1570T>A, XM_011515470.3:c.1570T>A, XM_011515470.2:c.1570T>A, XM_011515470.1:c.1570T>A, XM_017012501.2:c.1570T>A, XM_017012501.1:c.1570T>A, XM_024446864.2:c.1570T>A, XM_024446864.1:c.1570T>A, XM_024446863.2:c.1570T>A, XM_024446863.1:c.1570T>A, XM_024446865.2:c.1570T>A, XM_024446865.1:c.1570T>A, XM_047420693.1:c.1570T>A, NP_071399.2:p.Phe524Ile, NP_001036227.1:p.Phe524Ile, NP_001274421.1:p.Phe524Ile, NP_001274423.1:p.Phe524Ile, NP_001274425.1:p.Phe413Ile, NP_001333494.1:p.Phe524Ile, NP_001333487.1:p.Phe413Ile, NP_001333492.1:p.Phe524Ile, NP_001333489.1:p.Phe524Ile, NP_001333488.1:p.Phe413Ile, NP_001333493.1:p.Phe524Ile, NP_001333490.1:p.Phe524Ile, NP_001333491.1:p.Phe524Ile, NP_001274422.1:p.Phe524Ile, NP_001274424.1:p.Phe524Ile, XP_011513772.1:p.Phe524Ile, XP_016867990.1:p.Phe524Ile, XP_024302632.1:p.Phe524Ile, XP_024302631.1:p.Phe524Ile, XP_024302633.1:p.Phe524Ile, XP_047276649.1:p.Phe524Ile

Select item 14763612767.

rs1476361276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:50445647 (GRCh38)
7:50513345 (GRCh37)
Canonical SPDI:: NC_000007.14:50445646:C:T
Gene:: FIGNL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.50445647C>T, NC_000007.13:g.50513345C>T, NG_051949.1:g.9760G>A, NM_022116.7:c.1641G>A, NM_022116.6:c.1641G>A, NM_022116.5:c.1641G>A, NM_022116.4:c.1641G>A, NM_022116.3:c.1641G>A, NM_001042762.5:c.1641G>A, NM_001042762.4:c.1641G>A, NM_001042762.3:c.1641G>A, NM_001042762.2:c.1641G>A, NM_001042762.1:c.1641G>A, NM_001287492.4:c.1641G>A, NM_001287492.3:c.1641G>A, NM_001287492.2:c.1641G>A, NM_001287492.1:c.1641G>A, NM_001287494.4:c.1641G>A, NM_001287494.3:c.1641G>A, NM_001287494.2:c.1641G>A, NM_001287494.1:c.1641G>A, NM_001287496.4:c.1308G>A, NM_001287496.3:c.1308G>A, NM_001287496.2:c.1308G>A, NM_001287496.1:c.1308G>A, NM_001346565.3:c.1641G>A, NM_001346565.2:c.1641G>A, NM_001346565.1:c.1641G>A, NM_001346558.3:c.1308G>A, NM_001346558.2:c.1308G>A, NM_001346558.1:c.1308G>A, NM_001346563.3:c.1641G>A, NM_001346563.2:c.1641G>A, NM_001346563.1:c.1641G>A, NM_001346560.3:c.1641G>A, NM_001346560.2:c.1641G>A, NM_001346560.1:c.1641G>A, NM_001346559.3:c.1308G>A, NM_001346559.2:c.1308G>A, NM_001346559.1:c.1308G>A, NM_001346564.3:c.1641G>A, NM_001346564.2:c.1641G>A, NM_001346564.1:c.1641G>A, NM_001346561.3:c.1641G>A, NM_001346561.2:c.1641G>A, NM_001346561.1:c.1641G>A, NM_001346562.3:c.1641G>A, NM_001346562.2:c.1641G>A, NM_001346562.1:c.1641G>A, NM_001287493.3:c.1641G>A, NM_001287493.2:c.1641G>A, NM_001287493.1:c.1641G>A, NM_001287495.3:c.1641G>A, NM_001287495.2:c.1641G>A, NM_001287495.1:c.1641G>A, XM_011515470.4:c.1641G>A, XM_011515470.3:c.1641G>A, XM_011515470.2:c.1641G>A, XM_011515470.1:c.1641G>A, XM_017012501.2:c.1641G>A, XM_017012501.1:c.1641G>A, XM_024446864.2:c.1641G>A, XM_024446864.1:c.1641G>A, XM_024446863.2:c.1641G>A, XM_024446863.1:c.1641G>A, XM_024446865.2:c.1641G>A, XM_024446865.1:c.1641G>A, XM_047420693.1:c.1641G>A

Select item 14760513978.

rs1476051397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:50445457 (GRCh38)
7:50513155 (GRCh37)
Canonical SPDI:: NC_000007.14:50445456:G:A
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.50445457G>A, NC_000007.13:g.50513155G>A, NG_051949.1:g.9950C>T, NM_022116.7:c.1831C>T, NM_022116.6:c.1831C>T, NM_022116.5:c.1831C>T, NM_022116.4:c.1831C>T, NM_022116.3:c.1831C>T, NM_001042762.5:c.1831C>T, NM_001042762.4:c.1831C>T, NM_001042762.3:c.1831C>T, NM_001042762.2:c.1831C>T, NM_001042762.1:c.1831C>T, NM_001287492.4:c.1831C>T, NM_001287492.3:c.1831C>T, NM_001287492.2:c.1831C>T, NM_001287492.1:c.1831C>T, NM_001287494.4:c.1831C>T, NM_001287494.3:c.1831C>T, NM_001287494.2:c.1831C>T, NM_001287494.1:c.1831C>T, NM_001287496.4:c.1498C>T, NM_001287496.3:c.1498C>T, NM_001287496.2:c.1498C>T, NM_001287496.1:c.1498C>T, NM_001346565.3:c.1831C>T, NM_001346565.2:c.1831C>T, NM_001346565.1:c.1831C>T, NM_001346558.3:c.1498C>T, NM_001346558.2:c.1498C>T, NM_001346558.1:c.1498C>T, NM_001346563.3:c.1831C>T, NM_001346563.2:c.1831C>T, NM_001346563.1:c.1831C>T, NM_001346560.3:c.1831C>T, NM_001346560.2:c.1831C>T, NM_001346560.1:c.1831C>T, NM_001346559.3:c.1498C>T, NM_001346559.2:c.1498C>T, NM_001346559.1:c.1498C>T, NM_001346564.3:c.1831C>T, NM_001346564.2:c.1831C>T, NM_001346564.1:c.1831C>T, NM_001346561.3:c.1831C>T, NM_001346561.2:c.1831C>T, NM_001346561.1:c.1831C>T, NM_001346562.3:c.1831C>T, NM_001346562.2:c.1831C>T, NM_001346562.1:c.1831C>T, NM_001287493.3:c.1831C>T, NM_001287493.2:c.1831C>T, NM_001287493.1:c.1831C>T, NM_001287495.3:c.1831C>T, NM_001287495.2:c.1831C>T, NM_001287495.1:c.1831C>T, XM_011515470.4:c.1831C>T, XM_011515470.3:c.1831C>T, XM_011515470.2:c.1831C>T, XM_011515470.1:c.1831C>T, XM_017012501.2:c.1831C>T, XM_017012501.1:c.1831C>T, XM_024446864.2:c.1831C>T, XM_024446864.1:c.1831C>T, XM_024446863.2:c.1831C>T, XM_024446863.1:c.1831C>T, XM_024446865.2:c.1831C>T, XM_024446865.1:c.1831C>T, XM_047420693.1:c.1831C>T, NP_071399.2:p.Leu611Phe, NP_001036227.1:p.Leu611Phe, NP_001274421.1:p.Leu611Phe, NP_001274423.1:p.Leu611Phe, NP_001274425.1:p.Leu500Phe, NP_001333494.1:p.Leu611Phe, NP_001333487.1:p.Leu500Phe, NP_001333492.1:p.Leu611Phe, NP_001333489.1:p.Leu611Phe, NP_001333488.1:p.Leu500Phe, NP_001333493.1:p.Leu611Phe, NP_001333490.1:p.Leu611Phe, NP_001333491.1:p.Leu611Phe, NP_001274422.1:p.Leu611Phe, NP_001274424.1:p.Leu611Phe, XP_011513772.1:p.Leu611Phe, XP_016867990.1:p.Leu611Phe, XP_024302632.1:p.Leu611Phe, XP_024302631.1:p.Leu611Phe, XP_024302633.1:p.Leu611Phe, XP_047276649.1:p.Leu611Phe

Select item 14752589209.

rs1475258920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:50446379 (GRCh38)
7:50514077 (GRCh37)
Canonical SPDI:: NC_000007.14:50446378:C:A
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.000684/2 (KOREAN)
HGVS:: NC_000007.14:g.50446379C>A, NC_000007.13:g.50514077C>A, NG_051949.1:g.9028G>T, NM_022116.7:c.909G>T, NM_022116.6:c.909G>T, NM_022116.5:c.909G>T, NM_022116.4:c.909G>T, NM_022116.3:c.909G>T, NM_001042762.5:c.909G>T, NM_001042762.4:c.909G>T, NM_001042762.3:c.909G>T, NM_001042762.2:c.909G>T, NM_001042762.1:c.909G>T, NM_001287492.4:c.909G>T, NM_001287492.3:c.909G>T, NM_001287492.2:c.909G>T, NM_001287492.1:c.909G>T, NM_001287494.4:c.909G>T, NM_001287494.3:c.909G>T, NM_001287494.2:c.909G>T, NM_001287494.1:c.909G>T, NM_001287496.4:c.576G>T, NM_001287496.3:c.576G>T, NM_001287496.2:c.576G>T, NM_001287496.1:c.576G>T, NM_001346565.3:c.909G>T, NM_001346565.2:c.909G>T, NM_001346565.1:c.909G>T, NM_001346558.3:c.576G>T, NM_001346558.2:c.576G>T, NM_001346558.1:c.576G>T, NM_001346563.3:c.909G>T, NM_001346563.2:c.909G>T, NM_001346563.1:c.909G>T, NM_001346560.3:c.909G>T, NM_001346560.2:c.909G>T, NM_001346560.1:c.909G>T, NM_001346559.3:c.576G>T, NM_001346559.2:c.576G>T, NM_001346559.1:c.576G>T, NM_001346564.3:c.909G>T, NM_001346564.2:c.909G>T, NM_001346564.1:c.909G>T, NM_001346561.3:c.909G>T, NM_001346561.2:c.909G>T, NM_001346561.1:c.909G>T, NM_001346562.3:c.909G>T, NM_001346562.2:c.909G>T, NM_001346562.1:c.909G>T, NM_001287493.3:c.909G>T, NM_001287493.2:c.909G>T, NM_001287493.1:c.909G>T, NM_001287495.3:c.909G>T, NM_001287495.2:c.909G>T, NM_001287495.1:c.909G>T, XM_011515470.4:c.909G>T, XM_011515470.3:c.909G>T, XM_011515470.2:c.909G>T, XM_011515470.1:c.909G>T, XM_017012501.2:c.909G>T, XM_017012501.1:c.909G>T, XM_024446864.2:c.909G>T, XM_024446864.1:c.909G>T, XM_024446863.2:c.909G>T, XM_024446863.1:c.909G>T, XM_024446865.2:c.909G>T, XM_024446865.1:c.909G>T, XM_047420693.1:c.909G>T, NP_071399.2:p.Trp303Cys, NP_001036227.1:p.Trp303Cys, NP_001274421.1:p.Trp303Cys, NP_001274423.1:p.Trp303Cys, NP_001274425.1:p.Trp192Cys, NP_001333494.1:p.Trp303Cys, NP_001333487.1:p.Trp192Cys, NP_001333492.1:p.Trp303Cys, NP_001333489.1:p.Trp303Cys, NP_001333488.1:p.Trp192Cys, NP_001333493.1:p.Trp303Cys, NP_001333490.1:p.Trp303Cys, NP_001333491.1:p.Trp303Cys, NP_001274422.1:p.Trp303Cys, NP_001274424.1:p.Trp303Cys, XP_011513772.1:p.Trp303Cys, XP_016867990.1:p.Trp303Cys, XP_024302632.1:p.Trp303Cys, XP_024302631.1:p.Trp303Cys, XP_024302633.1:p.Trp303Cys, XP_047276649.1:p.Trp303Cys

Select item 147525278810.

rs1475252788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:50447001 (GRCh38)
7:50514699 (GRCh37)
Canonical SPDI:: NC_000007.14:50447000:T:A,NC_000007.14:50447000:T:C
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.50447001T>A, NC_000007.14:g.50447001T>C, NC_000007.13:g.50514699T>A, NC_000007.13:g.50514699T>C, NG_051949.1:g.8406A>T, NG_051949.1:g.8406A>G, NM_022116.7:c.287A>T, NM_022116.7:c.287A>G, NM_022116.6:c.287A>T, NM_022116.6:c.287A>G, NM_022116.5:c.287A>T, NM_022116.5:c.287A>G, NM_022116.4:c.287A>T, NM_022116.4:c.287A>G, NM_022116.3:c.287A>T, NM_022116.3:c.287A>G, NM_001042762.5:c.287A>T, NM_001042762.5:c.287A>G, NM_001042762.4:c.287A>T, NM_001042762.4:c.287A>G, NM_001042762.3:c.287A>T, NM_001042762.3:c.287A>G, NM_001042762.2:c.287A>T, NM_001042762.2:c.287A>G, NM_001042762.1:c.287A>T, NM_001042762.1:c.287A>G, NM_001287492.4:c.287A>T, NM_001287492.4:c.287A>G, NM_001287492.3:c.287A>T, NM_001287492.3:c.287A>G, NM_001287492.2:c.287A>T, NM_001287492.2:c.287A>G, NM_001287492.1:c.287A>T, NM_001287492.1:c.287A>G, NM_001287494.4:c.287A>T, NM_001287494.4:c.287A>G, NM_001287494.3:c.287A>T, NM_001287494.3:c.287A>G, NM_001287494.2:c.287A>T, NM_001287494.2:c.287A>G, NM_001287494.1:c.287A>T, NM_001287494.1:c.287A>G, NM_001287496.4:c.-47A>T, NM_001287496.4:c.-47A>G, NM_001287496.3:c.-47A>T, NM_001287496.3:c.-47A>G, NM_001287496.2:c.-47A>T, NM_001287496.2:c.-47A>G, NM_001287496.1:c.-47A>T, NM_001287496.1:c.-47A>G, NM_001346565.3:c.287A>T, NM_001346565.3:c.287A>G, NM_001346565.2:c.287A>T, NM_001346565.2:c.287A>G, NM_001346565.1:c.287A>T, NM_001346565.1:c.287A>G, NM_001346558.3:c.-47A>T, NM_001346558.3:c.-47A>G, NM_001346558.2:c.-47A>T, NM_001346558.2:c.-47A>G, NM_001346558.1:c.-47A>T, NM_001346558.1:c.-47A>G, NM_001346563.3:c.287A>T, NM_001346563.3:c.287A>G, NM_001346563.2:c.287A>T, NM_001346563.2:c.287A>G, NM_001346563.1:c.287A>T, NM_001346563.1:c.287A>G, NM_001346560.3:c.287A>T, NM_001346560.3:c.287A>G, NM_001346560.2:c.287A>T, NM_001346560.2:c.287A>G, NM_001346560.1:c.287A>T, NM_001346560.1:c.287A>G, NM_001346559.3:c.-47A>T, NM_001346559.3:c.-47A>G, NM_001346559.2:c.-47A>T, NM_001346559.2:c.-47A>G, NM_001346559.1:c.-47A>T, NM_001346559.1:c.-47A>G, NM_001346564.3:c.287A>T, NM_001346564.3:c.287A>G, NM_001346564.2:c.287A>T, NM_001346564.2:c.287A>G, NM_001346564.1:c.287A>T, NM_001346564.1:c.287A>G, NM_001346561.3:c.287A>T, NM_001346561.3:c.287A>G, NM_001346561.2:c.287A>T, NM_001346561.2:c.287A>G, NM_001346561.1:c.287A>T, NM_001346561.1:c.287A>G, NM_001346562.3:c.287A>T, NM_001346562.3:c.287A>G, NM_001346562.2:c.287A>T, NM_001346562.2:c.287A>G, NM_001346562.1:c.287A>T, NM_001346562.1:c.287A>G, NM_001287493.3:c.287A>T, NM_001287493.3:c.287A>G, NM_001287493.2:c.287A>T, NM_001287493.2:c.287A>G, NM_001287493.1:c.287A>T, NM_001287493.1:c.287A>G, NM_001287495.3:c.287A>T, NM_001287495.3:c.287A>G, NM_001287495.2:c.287A>T, NM_001287495.2:c.287A>G, NM_001287495.1:c.287A>T, NM_001287495.1:c.287A>G, XM_011515470.4:c.287A>T, XM_011515470.4:c.287A>G, XM_011515470.3:c.287A>T, XM_011515470.3:c.287A>G, XM_011515470.2:c.287A>T, XM_011515470.2:c.287A>G, XM_011515470.1:c.287A>T, XM_011515470.1:c.287A>G, XM_017012501.2:c.287A>T, XM_017012501.2:c.287A>G, XM_017012501.1:c.287A>T, XM_017012501.1:c.287A>G, XM_024446864.2:c.287A>T, XM_024446864.2:c.287A>G, XM_024446864.1:c.287A>T, XM_024446864.1:c.287A>G, XM_024446863.2:c.287A>T, XM_024446863.2:c.287A>G, XM_024446863.1:c.287A>T, XM_024446863.1:c.287A>G, XM_024446865.2:c.287A>T, XM_024446865.2:c.287A>G, XM_024446865.1:c.287A>T, XM_024446865.1:c.287A>G, XM_047420693.1:c.287A>T, XM_047420693.1:c.287A>G, NP_071399.2:p.Asp96Val, NP_071399.2:p.Asp96Gly, NP_001036227.1:p.Asp96Val, NP_001036227.1:p.Asp96Gly, NP_001274421.1:p.Asp96Val, NP_001274421.1:p.Asp96Gly, NP_001274423.1:p.Asp96Val, NP_001274423.1:p.Asp96Gly, NP_001333494.1:p.Asp96Val, NP_001333494.1:p.Asp96Gly, NP_001333492.1:p.Asp96Val, NP_001333492.1:p.Asp96Gly, NP_001333489.1:p.Asp96Val, NP_001333489.1:p.Asp96Gly, NP_001333493.1:p.Asp96Val, NP_001333493.1:p.Asp96Gly, NP_001333490.1:p.Asp96Val, NP_001333490.1:p.Asp96Gly, NP_001333491.1:p.Asp96Val, NP_001333491.1:p.Asp96Gly, NP_001274422.1:p.Asp96Val, NP_001274422.1:p.Asp96Gly, NP_001274424.1:p.Asp96Val, NP_001274424.1:p.Asp96Gly, XP_011513772.1:p.Asp96Val, XP_011513772.1:p.Asp96Gly, XP_016867990.1:p.Asp96Val, XP_016867990.1:p.Asp96Gly, XP_024302632.1:p.Asp96Val, XP_024302632.1:p.Asp96Gly, XP_024302631.1:p.Asp96Val, XP_024302631.1:p.Asp96Gly, XP_024302633.1:p.Asp96Val, XP_024302633.1:p.Asp96Gly, XP_047276649.1:p.Asp96Val, XP_047276649.1:p.Asp96Gly

Select item 147483140311.

rs1474831403 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:50446664 (GRCh38)
7:50514362 (GRCh37)
Canonical SPDI:: NC_000007.14:50446663:A:C
Gene:: FIGNL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.50446664A>C, NC_000007.13:g.50514362A>C, NG_051949.1:g.8743T>G, NM_022116.7:c.624T>G, NM_022116.6:c.624T>G, NM_022116.5:c.624T>G, NM_022116.4:c.624T>G, NM_022116.3:c.624T>G, NM_001042762.5:c.624T>G, NM_001042762.4:c.624T>G, NM_001042762.3:c.624T>G, NM_001042762.2:c.624T>G, NM_001042762.1:c.624T>G, NM_001287492.4:c.624T>G, NM_001287492.3:c.624T>G, NM_001287492.2:c.624T>G, NM_001287492.1:c.624T>G, NM_001287494.4:c.624T>G, NM_001287494.3:c.624T>G, NM_001287494.2:c.624T>G, NM_001287494.1:c.624T>G, NM_001287496.4:c.291T>G, NM_001287496.3:c.291T>G, NM_001287496.2:c.291T>G, NM_001287496.1:c.291T>G, NM_001346565.3:c.624T>G, NM_001346565.2:c.624T>G, NM_001346565.1:c.624T>G, NM_001346558.3:c.291T>G, NM_001346558.2:c.291T>G, NM_001346558.1:c.291T>G, NM_001346563.3:c.624T>G, NM_001346563.2:c.624T>G, NM_001346563.1:c.624T>G, NM_001346560.3:c.624T>G, NM_001346560.2:c.624T>G, NM_001346560.1:c.624T>G, NM_001346559.3:c.291T>G, NM_001346559.2:c.291T>G, NM_001346559.1:c.291T>G, NM_001346564.3:c.624T>G, NM_001346564.2:c.624T>G, NM_001346564.1:c.624T>G, NM_001346561.3:c.624T>G, NM_001346561.2:c.624T>G, NM_001346561.1:c.624T>G, NM_001346562.3:c.624T>G, NM_001346562.2:c.624T>G, NM_001346562.1:c.624T>G, NM_001287493.3:c.624T>G, NM_001287493.2:c.624T>G, NM_001287493.1:c.624T>G, NM_001287495.3:c.624T>G, NM_001287495.2:c.624T>G, NM_001287495.1:c.624T>G, XM_011515470.4:c.624T>G, XM_011515470.3:c.624T>G, XM_011515470.2:c.624T>G, XM_011515470.1:c.624T>G, XM_017012501.2:c.624T>G, XM_017012501.1:c.624T>G, XM_024446864.2:c.624T>G, XM_024446864.1:c.624T>G, XM_024446863.2:c.624T>G, XM_024446863.1:c.624T>G, XM_024446865.2:c.624T>G, XM_024446865.1:c.624T>G, XM_047420693.1:c.624T>G

Select item 147422787612.

rs1474227876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:50446887 (GRCh38)
7:50514585 (GRCh37)
Canonical SPDI:: NC_000007.14:50446886:A:T
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.50446887A>T, NC_000007.13:g.50514585A>T, NG_051949.1:g.8520T>A, NM_022116.7:c.401T>A, NM_022116.6:c.401T>A, NM_022116.5:c.401T>A, NM_022116.4:c.401T>A, NM_022116.3:c.401T>A, NM_001042762.5:c.401T>A, NM_001042762.4:c.401T>A, NM_001042762.3:c.401T>A, NM_001042762.2:c.401T>A, NM_001042762.1:c.401T>A, NM_001287492.4:c.401T>A, NM_001287492.3:c.401T>A, NM_001287492.2:c.401T>A, NM_001287492.1:c.401T>A, NM_001287494.4:c.401T>A, NM_001287494.3:c.401T>A, NM_001287494.2:c.401T>A, NM_001287494.1:c.401T>A, NM_001287496.4:c.68T>A, NM_001287496.3:c.68T>A, NM_001287496.2:c.68T>A, NM_001287496.1:c.68T>A, NM_001346565.3:c.401T>A, NM_001346565.2:c.401T>A, NM_001346565.1:c.401T>A, NM_001346558.3:c.68T>A, NM_001346558.2:c.68T>A, NM_001346558.1:c.68T>A, NM_001346563.3:c.401T>A, NM_001346563.2:c.401T>A, NM_001346563.1:c.401T>A, NM_001346560.3:c.401T>A, NM_001346560.2:c.401T>A, NM_001346560.1:c.401T>A, NM_001346559.3:c.68T>A, NM_001346559.2:c.68T>A, NM_001346559.1:c.68T>A, NM_001346564.3:c.401T>A, NM_001346564.2:c.401T>A, NM_001346564.1:c.401T>A, NM_001346561.3:c.401T>A, NM_001346561.2:c.401T>A, NM_001346561.1:c.401T>A, NM_001346562.3:c.401T>A, NM_001346562.2:c.401T>A, NM_001346562.1:c.401T>A, NM_001287493.3:c.401T>A, NM_001287493.2:c.401T>A, NM_001287493.1:c.401T>A, NM_001287495.3:c.401T>A, NM_001287495.2:c.401T>A, NM_001287495.1:c.401T>A, XM_011515470.4:c.401T>A, XM_011515470.3:c.401T>A, XM_011515470.2:c.401T>A, XM_011515470.1:c.401T>A, XM_017012501.2:c.401T>A, XM_017012501.1:c.401T>A, XM_024446864.2:c.401T>A, XM_024446864.1:c.401T>A, XM_024446863.2:c.401T>A, XM_024446863.1:c.401T>A, XM_024446865.2:c.401T>A, XM_024446865.1:c.401T>A, XM_047420693.1:c.401T>A, NP_071399.2:p.Leu134His, NP_001036227.1:p.Leu134His, NP_001274421.1:p.Leu134His, NP_001274423.1:p.Leu134His, NP_001274425.1:p.Leu23His, NP_001333494.1:p.Leu134His, NP_001333487.1:p.Leu23His, NP_001333492.1:p.Leu134His, NP_001333489.1:p.Leu134His, NP_001333488.1:p.Leu23His, NP_001333493.1:p.Leu134His, NP_001333490.1:p.Leu134His, NP_001333491.1:p.Leu134His, NP_001274422.1:p.Leu134His, NP_001274424.1:p.Leu134His, XP_011513772.1:p.Leu134His, XP_016867990.1:p.Leu134His, XP_024302632.1:p.Leu134His, XP_024302631.1:p.Leu134His, XP_024302633.1:p.Leu134His, XP_047276649.1:p.Leu134His

Select item 147356911413.

rs1473569114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:50445384 (GRCh38)
7:50513082 (GRCh37)
Canonical SPDI:: NC_000007.14:50445383:T:C
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.50445384T>C, NC_000007.13:g.50513082T>C, NG_051949.1:g.10023A>G, NM_022116.7:c.1904A>G, NM_022116.6:c.1904A>G, NM_022116.5:c.1904A>G, NM_022116.4:c.1904A>G, NM_022116.3:c.1904A>G, NM_001042762.5:c.1904A>G, NM_001042762.4:c.1904A>G, NM_001042762.3:c.1904A>G, NM_001042762.2:c.1904A>G, NM_001042762.1:c.1904A>G, NM_001287492.4:c.1904A>G, NM_001287492.3:c.1904A>G, NM_001287492.2:c.1904A>G, NM_001287492.1:c.1904A>G, NM_001287494.4:c.1904A>G, NM_001287494.3:c.1904A>G, NM_001287494.2:c.1904A>G, NM_001287494.1:c.1904A>G, NM_001287496.4:c.1571A>G, NM_001287496.3:c.1571A>G, NM_001287496.2:c.1571A>G, NM_001287496.1:c.1571A>G, NM_001346565.3:c.1904A>G, NM_001346565.2:c.1904A>G, NM_001346565.1:c.1904A>G, NM_001346558.3:c.1571A>G, NM_001346558.2:c.1571A>G, NM_001346558.1:c.1571A>G, NM_001346563.3:c.1904A>G, NM_001346563.2:c.1904A>G, NM_001346563.1:c.1904A>G, NM_001346560.3:c.1904A>G, NM_001346560.2:c.1904A>G, NM_001346560.1:c.1904A>G, NM_001346559.3:c.1571A>G, NM_001346559.2:c.1571A>G, NM_001346559.1:c.1571A>G, NM_001346564.3:c.1904A>G, NM_001346564.2:c.1904A>G, NM_001346564.1:c.1904A>G, NM_001346561.3:c.1904A>G, NM_001346561.2:c.1904A>G, NM_001346561.1:c.1904A>G, NM_001346562.3:c.1904A>G, NM_001346562.2:c.1904A>G, NM_001346562.1:c.1904A>G, NM_001287493.3:c.1904A>G, NM_001287493.2:c.1904A>G, NM_001287493.1:c.1904A>G, NM_001287495.3:c.1904A>G, NM_001287495.2:c.1904A>G, NM_001287495.1:c.1904A>G, XM_011515470.4:c.1904A>G, XM_011515470.3:c.1904A>G, XM_011515470.2:c.1904A>G, XM_011515470.1:c.1904A>G, XM_017012501.2:c.1904A>G, XM_017012501.1:c.1904A>G, XM_024446864.2:c.1904A>G, XM_024446864.1:c.1904A>G, XM_024446863.2:c.1904A>G, XM_024446863.1:c.1904A>G, XM_024446865.2:c.1904A>G, XM_024446865.1:c.1904A>G, XM_047420693.1:c.1904A>G, NP_071399.2:p.Gln635Arg, NP_001036227.1:p.Gln635Arg, NP_001274421.1:p.Gln635Arg, NP_001274423.1:p.Gln635Arg, NP_001274425.1:p.Gln524Arg, NP_001333494.1:p.Gln635Arg, NP_001333487.1:p.Gln524Arg, NP_001333492.1:p.Gln635Arg, NP_001333489.1:p.Gln635Arg, NP_001333488.1:p.Gln524Arg, NP_001333493.1:p.Gln635Arg, NP_001333490.1:p.Gln635Arg, NP_001333491.1:p.Gln635Arg, NP_001274422.1:p.Gln635Arg, NP_001274424.1:p.Gln635Arg, XP_011513772.1:p.Gln635Arg, XP_016867990.1:p.Gln635Arg, XP_024302632.1:p.Gln635Arg, XP_024302631.1:p.Gln635Arg, XP_024302633.1:p.Gln635Arg, XP_047276649.1:p.Gln635Arg

Select item 147280002714.

rs1472800027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:50447107 (GRCh38)
7:50514805 (GRCh37)
Canonical SPDI:: NC_000007.14:50447106:T:G
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000007.14:g.50447107T>G, NC_000007.13:g.50514805T>G, NG_051949.1:g.8300A>C, NM_022116.7:c.181A>C, NM_022116.6:c.181A>C, NM_022116.5:c.181A>C, NM_022116.4:c.181A>C, NM_022116.3:c.181A>C, NM_001042762.5:c.181A>C, NM_001042762.4:c.181A>C, NM_001042762.3:c.181A>C, NM_001042762.2:c.181A>C, NM_001042762.1:c.181A>C, NM_001287492.4:c.181A>C, NM_001287492.3:c.181A>C, NM_001287492.2:c.181A>C, NM_001287492.1:c.181A>C, NM_001287494.4:c.181A>C, NM_001287494.3:c.181A>C, NM_001287494.2:c.181A>C, NM_001287494.1:c.181A>C, NM_001346565.3:c.181A>C, NM_001346565.2:c.181A>C, NM_001346565.1:c.181A>C, NM_001346563.3:c.181A>C, NM_001346563.2:c.181A>C, NM_001346563.1:c.181A>C, NM_001346560.3:c.181A>C, NM_001346560.2:c.181A>C, NM_001346560.1:c.181A>C, NM_001346564.3:c.181A>C, NM_001346564.2:c.181A>C, NM_001346564.1:c.181A>C, NM_001346561.3:c.181A>C, NM_001346561.2:c.181A>C, NM_001346561.1:c.181A>C, NM_001346562.3:c.181A>C, NM_001346562.2:c.181A>C, NM_001346562.1:c.181A>C, NM_001287493.3:c.181A>C, NM_001287493.2:c.181A>C, NM_001287493.1:c.181A>C, NM_001287495.3:c.181A>C, NM_001287495.2:c.181A>C, NM_001287495.1:c.181A>C, XM_011515470.4:c.181A>C, XM_011515470.3:c.181A>C, XM_011515470.2:c.181A>C, XM_011515470.1:c.181A>C, XM_017012501.2:c.181A>C, XM_017012501.1:c.181A>C, XM_024446864.2:c.181A>C, XM_024446864.1:c.181A>C, XM_024446863.2:c.181A>C, XM_024446863.1:c.181A>C, XM_024446865.2:c.181A>C, XM_024446865.1:c.181A>C, XM_047420693.1:c.181A>C, NP_071399.2:p.Lys61Gln, NP_001036227.1:p.Lys61Gln, NP_001274421.1:p.Lys61Gln, NP_001274423.1:p.Lys61Gln, NP_001333494.1:p.Lys61Gln, NP_001333492.1:p.Lys61Gln, NP_001333489.1:p.Lys61Gln, NP_001333493.1:p.Lys61Gln, NP_001333490.1:p.Lys61Gln, NP_001333491.1:p.Lys61Gln, NP_001274422.1:p.Lys61Gln, NP_001274424.1:p.Lys61Gln, XP_011513772.1:p.Lys61Gln, XP_016867990.1:p.Lys61Gln, XP_024302632.1:p.Lys61Gln, XP_024302631.1:p.Lys61Gln, XP_024302633.1:p.Lys61Gln, XP_047276649.1:p.Lys61Gln

Select item 147198852115.

rs1471988521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:50446363 (GRCh38)
7:50514061 (GRCh37)
Canonical SPDI:: NC_000007.14:50446362:T:C
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.50446363T>C, NC_000007.13:g.50514061T>C, NG_051949.1:g.9044A>G, NM_022116.7:c.925A>G, NM_022116.6:c.925A>G, NM_022116.5:c.925A>G, NM_022116.4:c.925A>G, NM_022116.3:c.925A>G, NM_001042762.5:c.925A>G, NM_001042762.4:c.925A>G, NM_001042762.3:c.925A>G, NM_001042762.2:c.925A>G, NM_001042762.1:c.925A>G, NM_001287492.4:c.925A>G, NM_001287492.3:c.925A>G, NM_001287492.2:c.925A>G, NM_001287492.1:c.925A>G, NM_001287494.4:c.925A>G, NM_001287494.3:c.925A>G, NM_001287494.2:c.925A>G, NM_001287494.1:c.925A>G, NM_001287496.4:c.592A>G, NM_001287496.3:c.592A>G, NM_001287496.2:c.592A>G, NM_001287496.1:c.592A>G, NM_001346565.3:c.925A>G, NM_001346565.2:c.925A>G, NM_001346565.1:c.925A>G, NM_001346558.3:c.592A>G, NM_001346558.2:c.592A>G, NM_001346558.1:c.592A>G, NM_001346563.3:c.925A>G, NM_001346563.2:c.925A>G, NM_001346563.1:c.925A>G, NM_001346560.3:c.925A>G, NM_001346560.2:c.925A>G, NM_001346560.1:c.925A>G, NM_001346559.3:c.592A>G, NM_001346559.2:c.592A>G, NM_001346559.1:c.592A>G, NM_001346564.3:c.925A>G, NM_001346564.2:c.925A>G, NM_001346564.1:c.925A>G, NM_001346561.3:c.925A>G, NM_001346561.2:c.925A>G, NM_001346561.1:c.925A>G, NM_001346562.3:c.925A>G, NM_001346562.2:c.925A>G, NM_001346562.1:c.925A>G, NM_001287493.3:c.925A>G, NM_001287493.2:c.925A>G, NM_001287493.1:c.925A>G, NM_001287495.3:c.925A>G, NM_001287495.2:c.925A>G, NM_001287495.1:c.925A>G, XM_011515470.4:c.925A>G, XM_011515470.3:c.925A>G, XM_011515470.2:c.925A>G, XM_011515470.1:c.925A>G, XM_017012501.2:c.925A>G, XM_017012501.1:c.925A>G, XM_024446864.2:c.925A>G, XM_024446864.1:c.925A>G, XM_024446863.2:c.925A>G, XM_024446863.1:c.925A>G, XM_024446865.2:c.925A>G, XM_024446865.1:c.925A>G, XM_047420693.1:c.925A>G, NP_071399.2:p.Lys309Glu, NP_001036227.1:p.Lys309Glu, NP_001274421.1:p.Lys309Glu, NP_001274423.1:p.Lys309Glu, NP_001274425.1:p.Lys198Glu, NP_001333494.1:p.Lys309Glu, NP_001333487.1:p.Lys198Glu, NP_001333492.1:p.Lys309Glu, NP_001333489.1:p.Lys309Glu, NP_001333488.1:p.Lys198Glu, NP_001333493.1:p.Lys309Glu, NP_001333490.1:p.Lys309Glu, NP_001333491.1:p.Lys309Glu, NP_001274422.1:p.Lys309Glu, NP_001274424.1:p.Lys309Glu, XP_011513772.1:p.Lys309Glu, XP_016867990.1:p.Lys309Glu, XP_024302632.1:p.Lys309Glu, XP_024302631.1:p.Lys309Glu, XP_024302633.1:p.Lys309Glu, XP_047276649.1:p.Lys309Glu

Select item 147147781516.

rs1471477815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:50445313 (GRCh38)
7:50513011 (GRCh37)
Canonical SPDI:: NC_000007.14:50445312:C:G
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.50445313C>G, NC_000007.13:g.50513011C>G, NG_051949.1:g.10094G>C, NM_022116.7:c.1975G>C, NM_022116.6:c.1975G>C, NM_022116.5:c.1975G>C, NM_022116.4:c.1975G>C, NM_022116.3:c.1975G>C, NM_001042762.5:c.1975G>C, NM_001042762.4:c.1975G>C, NM_001042762.3:c.1975G>C, NM_001042762.2:c.1975G>C, NM_001042762.1:c.1975G>C, NM_001287492.4:c.1975G>C, NM_001287492.3:c.1975G>C, NM_001287492.2:c.1975G>C, NM_001287492.1:c.1975G>C, NM_001287494.4:c.1975G>C, NM_001287494.3:c.1975G>C, NM_001287494.2:c.1975G>C, NM_001287494.1:c.1975G>C, NM_001287496.4:c.1642G>C, NM_001287496.3:c.1642G>C, NM_001287496.2:c.1642G>C, NM_001287496.1:c.1642G>C, NM_001346565.3:c.1975G>C, NM_001346565.2:c.1975G>C, NM_001346565.1:c.1975G>C, NM_001346558.3:c.1642G>C, NM_001346558.2:c.1642G>C, NM_001346558.1:c.1642G>C, NM_001346563.3:c.1975G>C, NM_001346563.2:c.1975G>C, NM_001346563.1:c.1975G>C, NM_001346560.3:c.1975G>C, NM_001346560.2:c.1975G>C, NM_001346560.1:c.1975G>C, NM_001346559.3:c.1642G>C, NM_001346559.2:c.1642G>C, NM_001346559.1:c.1642G>C, NM_001346564.3:c.1975G>C, NM_001346564.2:c.1975G>C, NM_001346564.1:c.1975G>C, NM_001346561.3:c.1975G>C, NM_001346561.2:c.1975G>C, NM_001346561.1:c.1975G>C, NM_001346562.3:c.1975G>C, NM_001346562.2:c.1975G>C, NM_001346562.1:c.1975G>C, NM_001287493.3:c.1975G>C, NM_001287493.2:c.1975G>C, NM_001287493.1:c.1975G>C, NM_001287495.3:c.1975G>C, NM_001287495.2:c.1975G>C, NM_001287495.1:c.1975G>C, XM_011515470.4:c.1975G>C, XM_011515470.3:c.1975G>C, XM_011515470.2:c.1975G>C, XM_011515470.1:c.1975G>C, XM_017012501.2:c.1975G>C, XM_017012501.1:c.1975G>C, XM_024446864.2:c.1975G>C, XM_024446864.1:c.1975G>C, XM_024446863.2:c.1975G>C, XM_024446863.1:c.1975G>C, XM_024446865.2:c.1975G>C, XM_024446865.1:c.1975G>C, XM_047420693.1:c.1975G>C, NP_071399.2:p.Asp659His, NP_001036227.1:p.Asp659His, NP_001274421.1:p.Asp659His, NP_001274423.1:p.Asp659His, NP_001274425.1:p.Asp548His, NP_001333494.1:p.Asp659His, NP_001333487.1:p.Asp548His, NP_001333492.1:p.Asp659His, NP_001333489.1:p.Asp659His, NP_001333488.1:p.Asp548His, NP_001333493.1:p.Asp659His, NP_001333490.1:p.Asp659His, NP_001333491.1:p.Asp659His, NP_001274422.1:p.Asp659His, NP_001274424.1:p.Asp659His, XP_011513772.1:p.Asp659His, XP_016867990.1:p.Asp659His, XP_024302632.1:p.Asp659His, XP_024302631.1:p.Asp659His, XP_024302633.1:p.Asp659His, XP_047276649.1:p.Asp659His

Select item 146959044617.

rs1469590446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:50446640 (GRCh38)
7:50514338 (GRCh37)
Canonical SPDI:: NC_000007.14:50446639:A:G
Gene:: FIGNL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.50446640A>G, NC_000007.13:g.50514338A>G, NG_051949.1:g.8767T>C, NM_022116.7:c.648T>C, NM_022116.6:c.648T>C, NM_022116.5:c.648T>C, NM_022116.4:c.648T>C, NM_022116.3:c.648T>C, NM_001042762.5:c.648T>C, NM_001042762.4:c.648T>C, NM_001042762.3:c.648T>C, NM_001042762.2:c.648T>C, NM_001042762.1:c.648T>C, NM_001287492.4:c.648T>C, NM_001287492.3:c.648T>C, NM_001287492.2:c.648T>C, NM_001287492.1:c.648T>C, NM_001287494.4:c.648T>C, NM_001287494.3:c.648T>C, NM_001287494.2:c.648T>C, NM_001287494.1:c.648T>C, NM_001287496.4:c.315T>C, NM_001287496.3:c.315T>C, NM_001287496.2:c.315T>C, NM_001287496.1:c.315T>C, NM_001346565.3:c.648T>C, NM_001346565.2:c.648T>C, NM_001346565.1:c.648T>C, NM_001346558.3:c.315T>C, NM_001346558.2:c.315T>C, NM_001346558.1:c.315T>C, NM_001346563.3:c.648T>C, NM_001346563.2:c.648T>C, NM_001346563.1:c.648T>C, NM_001346560.3:c.648T>C, NM_001346560.2:c.648T>C, NM_001346560.1:c.648T>C, NM_001346559.3:c.315T>C, NM_001346559.2:c.315T>C, NM_001346559.1:c.315T>C, NM_001346564.3:c.648T>C, NM_001346564.2:c.648T>C, NM_001346564.1:c.648T>C, NM_001346561.3:c.648T>C, NM_001346561.2:c.648T>C, NM_001346561.1:c.648T>C, NM_001346562.3:c.648T>C, NM_001346562.2:c.648T>C, NM_001346562.1:c.648T>C, NM_001287493.3:c.648T>C, NM_001287493.2:c.648T>C, NM_001287493.1:c.648T>C, NM_001287495.3:c.648T>C, NM_001287495.2:c.648T>C, NM_001287495.1:c.648T>C, XM_011515470.4:c.648T>C, XM_011515470.3:c.648T>C, XM_011515470.2:c.648T>C, XM_011515470.1:c.648T>C, XM_017012501.2:c.648T>C, XM_017012501.1:c.648T>C, XM_024446864.2:c.648T>C, XM_024446864.1:c.648T>C, XM_024446863.2:c.648T>C, XM_024446863.1:c.648T>C, XM_024446865.2:c.648T>C, XM_024446865.1:c.648T>C, XM_047420693.1:c.648T>C

Select item 146797321418.

rs1467973214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:50445697 (GRCh38)
7:50513395 (GRCh37)
Canonical SPDI:: NC_000007.14:50445696:C:T
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.50445697C>T, NC_000007.13:g.50513395C>T, NG_051949.1:g.9710G>A, NM_022116.7:c.1591G>A, NM_022116.6:c.1591G>A, NM_022116.5:c.1591G>A, NM_022116.4:c.1591G>A, NM_022116.3:c.1591G>A, NM_001042762.5:c.1591G>A, NM_001042762.4:c.1591G>A, NM_001042762.3:c.1591G>A, NM_001042762.2:c.1591G>A, NM_001042762.1:c.1591G>A, NM_001287492.4:c.1591G>A, NM_001287492.3:c.1591G>A, NM_001287492.2:c.1591G>A, NM_001287492.1:c.1591G>A, NM_001287494.4:c.1591G>A, NM_001287494.3:c.1591G>A, NM_001287494.2:c.1591G>A, NM_001287494.1:c.1591G>A, NM_001287496.4:c.1258G>A, NM_001287496.3:c.1258G>A, NM_001287496.2:c.1258G>A, NM_001287496.1:c.1258G>A, NM_001346565.3:c.1591G>A, NM_001346565.2:c.1591G>A, NM_001346565.1:c.1591G>A, NM_001346558.3:c.1258G>A, NM_001346558.2:c.1258G>A, NM_001346558.1:c.1258G>A, NM_001346563.3:c.1591G>A, NM_001346563.2:c.1591G>A, NM_001346563.1:c.1591G>A, NM_001346560.3:c.1591G>A, NM_001346560.2:c.1591G>A, NM_001346560.1:c.1591G>A, NM_001346559.3:c.1258G>A, NM_001346559.2:c.1258G>A, NM_001346559.1:c.1258G>A, NM_001346564.3:c.1591G>A, NM_001346564.2:c.1591G>A, NM_001346564.1:c.1591G>A, NM_001346561.3:c.1591G>A, NM_001346561.2:c.1591G>A, NM_001346561.1:c.1591G>A, NM_001346562.3:c.1591G>A, NM_001346562.2:c.1591G>A, NM_001346562.1:c.1591G>A, NM_001287493.3:c.1591G>A, NM_001287493.2:c.1591G>A, NM_001287493.1:c.1591G>A, NM_001287495.3:c.1591G>A, NM_001287495.2:c.1591G>A, NM_001287495.1:c.1591G>A, XM_011515470.4:c.1591G>A, XM_011515470.3:c.1591G>A, XM_011515470.2:c.1591G>A, XM_011515470.1:c.1591G>A, XM_017012501.2:c.1591G>A, XM_017012501.1:c.1591G>A, XM_024446864.2:c.1591G>A, XM_024446864.1:c.1591G>A, XM_024446863.2:c.1591G>A, XM_024446863.1:c.1591G>A, XM_024446865.2:c.1591G>A, XM_024446865.1:c.1591G>A, XM_047420693.1:c.1591G>A, NP_071399.2:p.Ala531Thr, NP_001036227.1:p.Ala531Thr, NP_001274421.1:p.Ala531Thr, NP_001274423.1:p.Ala531Thr, NP_001274425.1:p.Ala420Thr, NP_001333494.1:p.Ala531Thr, NP_001333487.1:p.Ala420Thr, NP_001333492.1:p.Ala531Thr, NP_001333489.1:p.Ala531Thr, NP_001333488.1:p.Ala420Thr, NP_001333493.1:p.Ala531Thr, NP_001333490.1:p.Ala531Thr, NP_001333491.1:p.Ala531Thr, NP_001274422.1:p.Ala531Thr, NP_001274424.1:p.Ala531Thr, XP_011513772.1:p.Ala531Thr, XP_016867990.1:p.Ala531Thr, XP_024302632.1:p.Ala531Thr, XP_024302631.1:p.Ala531Thr, XP_024302633.1:p.Ala531Thr, XP_047276649.1:p.Ala531Thr

Select item 146795046219.

rs1467950462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:50445493 (GRCh38)
7:50513191 (GRCh37)
Canonical SPDI:: NC_000007.14:50445492:G:A
Gene:: FIGNL1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.50445493G>A, NC_000007.13:g.50513191G>A, NG_051949.1:g.9914C>T, NM_022116.7:c.1795C>T, NM_022116.6:c.1795C>T, NM_022116.5:c.1795C>T, NM_022116.4:c.1795C>T, NM_022116.3:c.1795C>T, NM_001042762.5:c.1795C>T, NM_001042762.4:c.1795C>T, NM_001042762.3:c.1795C>T, NM_001042762.2:c.1795C>T, NM_001042762.1:c.1795C>T, NM_001287492.4:c.1795C>T, NM_001287492.3:c.1795C>T, NM_001287492.2:c.1795C>T, NM_001287492.1:c.1795C>T, NM_001287494.4:c.1795C>T, NM_001287494.3:c.1795C>T, NM_001287494.2:c.1795C>T, NM_001287494.1:c.1795C>T, NM_001287496.4:c.1462C>T, NM_001287496.3:c.1462C>T, NM_001287496.2:c.1462C>T, NM_001287496.1:c.1462C>T, NM_001346565.3:c.1795C>T, NM_001346565.2:c.1795C>T, NM_001346565.1:c.1795C>T, NM_001346558.3:c.1462C>T, NM_001346558.2:c.1462C>T, NM_001346558.1:c.1462C>T, NM_001346563.3:c.1795C>T, NM_001346563.2:c.1795C>T, NM_001346563.1:c.1795C>T, NM_001346560.3:c.1795C>T, NM_001346560.2:c.1795C>T, NM_001346560.1:c.1795C>T, NM_001346559.3:c.1462C>T, NM_001346559.2:c.1462C>T, NM_001346559.1:c.1462C>T, NM_001346564.3:c.1795C>T, NM_001346564.2:c.1795C>T, NM_001346564.1:c.1795C>T, NM_001346561.3:c.1795C>T, NM_001346561.2:c.1795C>T, NM_001346561.1:c.1795C>T, NM_001346562.3:c.1795C>T, NM_001346562.2:c.1795C>T, NM_001346562.1:c.1795C>T, NM_001287493.3:c.1795C>T, NM_001287493.2:c.1795C>T, NM_001287493.1:c.1795C>T, NM_001287495.3:c.1795C>T, NM_001287495.2:c.1795C>T, NM_001287495.1:c.1795C>T, XM_011515470.4:c.1795C>T, XM_011515470.3:c.1795C>T, XM_011515470.2:c.1795C>T, XM_011515470.1:c.1795C>T, XM_017012501.2:c.1795C>T, XM_017012501.1:c.1795C>T, XM_024446864.2:c.1795C>T, XM_024446864.1:c.1795C>T, XM_024446863.2:c.1795C>T, XM_024446863.1:c.1795C>T, XM_024446865.2:c.1795C>T, XM_024446865.1:c.1795C>T, XM_047420693.1:c.1795C>T, NP_071399.2:p.Gln599Ter, NP_001036227.1:p.Gln599Ter, NP_001274421.1:p.Gln599Ter, NP_001274423.1:p.Gln599Ter, NP_001274425.1:p.Gln488Ter, NP_001333494.1:p.Gln599Ter, NP_001333487.1:p.Gln488Ter, NP_001333492.1:p.Gln599Ter, NP_001333489.1:p.Gln599Ter, NP_001333488.1:p.Gln488Ter, NP_001333493.1:p.Gln599Ter, NP_001333490.1:p.Gln599Ter, NP_001333491.1:p.Gln599Ter, NP_001274422.1:p.Gln599Ter, NP_001274424.1:p.Gln599Ter, XP_011513772.1:p.Gln599Ter, XP_016867990.1:p.Gln599Ter, XP_024302632.1:p.Gln599Ter, XP_024302631.1:p.Gln599Ter, XP_024302633.1:p.Gln599Ter, XP_047276649.1:p.Gln599Ter

Select item 146732366220.

rs1467323662 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:50446153 (GRCh38)
7:50513851 (GRCh37)
Canonical SPDI:: NC_000007.14:50446152:A:T
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.50446153A>T, NC_000007.13:g.50513851A>T, NG_051949.1:g.9254T>A, NM_022116.7:c.1135T>A, NM_022116.6:c.1135T>A, NM_022116.5:c.1135T>A, NM_022116.4:c.1135T>A, NM_022116.3:c.1135T>A, NM_001042762.5:c.1135T>A, NM_001042762.4:c.1135T>A, NM_001042762.3:c.1135T>A, NM_001042762.2:c.1135T>A, NM_001042762.1:c.1135T>A, NM_001287492.4:c.1135T>A, NM_001287492.3:c.1135T>A, NM_001287492.2:c.1135T>A, NM_001287492.1:c.1135T>A, NM_001287494.4:c.1135T>A, NM_001287494.3:c.1135T>A, NM_001287494.2:c.1135T>A, NM_001287494.1:c.1135T>A, NM_001287496.4:c.802T>A, NM_001287496.3:c.802T>A, NM_001287496.2:c.802T>A, NM_001287496.1:c.802T>A, NM_001346565.3:c.1135T>A, NM_001346565.2:c.1135T>A, NM_001346565.1:c.1135T>A, NM_001346558.3:c.802T>A, NM_001346558.2:c.802T>A, NM_001346558.1:c.802T>A, NM_001346563.3:c.1135T>A, NM_001346563.2:c.1135T>A, NM_001346563.1:c.1135T>A, NM_001346560.3:c.1135T>A, NM_001346560.2:c.1135T>A, NM_001346560.1:c.1135T>A, NM_001346559.3:c.802T>A, NM_001346559.2:c.802T>A, NM_001346559.1:c.802T>A, NM_001346564.3:c.1135T>A, NM_001346564.2:c.1135T>A, NM_001346564.1:c.1135T>A, NM_001346561.3:c.1135T>A, NM_001346561.2:c.1135T>A, NM_001346561.1:c.1135T>A, NM_001346562.3:c.1135T>A, NM_001346562.2:c.1135T>A, NM_001346562.1:c.1135T>A, NM_001287493.3:c.1135T>A, NM_001287493.2:c.1135T>A, NM_001287493.1:c.1135T>A, NM_001287495.3:c.1135T>A, NM_001287495.2:c.1135T>A, NM_001287495.1:c.1135T>A, XM_011515470.4:c.1135T>A, XM_011515470.3:c.1135T>A, XM_011515470.2:c.1135T>A, XM_011515470.1:c.1135T>A, XM_017012501.2:c.1135T>A, XM_017012501.1:c.1135T>A, XM_024446864.2:c.1135T>A, XM_024446864.1:c.1135T>A, XM_024446863.2:c.1135T>A, XM_024446863.1:c.1135T>A, XM_024446865.2:c.1135T>A, XM_024446865.1:c.1135T>A, XM_047420693.1:c.1135T>A, NP_071399.2:p.Leu379Met, NP_001036227.1:p.Leu379Met, NP_001274421.1:p.Leu379Met, NP_001274423.1:p.Leu379Met, NP_001274425.1:p.Leu268Met, NP_001333494.1:p.Leu379Met, NP_001333487.1:p.Leu268Met, NP_001333492.1:p.Leu379Met, NP_001333489.1:p.Leu379Met, NP_001333488.1:p.Leu268Met, NP_001333493.1:p.Leu379Met, NP_001333490.1:p.Leu379Met, NP_001333491.1:p.Leu379Met, NP_001274422.1:p.Leu379Met, NP_001274424.1:p.Leu379Met, XP_011513772.1:p.Leu379Met, XP_016867990.1:p.Leu379Met, XP_024302632.1:p.Leu379Met, XP_024302631.1:p.Leu379Met, XP_024302633.1:p.Leu379Met, XP_047276649.1:p.Leu379Met

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