SNP Links for Protein (Select 767930480) - SNP

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:48991574 (GRCh38)
4:48993591 (GRCh37)
Canonical SPDI:: NC_000004.12:48991573:GG:G
Gene:: CWH43 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,splice_donor_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.48991575del, NC_000004.11:g.48993592del

Select item 147424460714.

rs1474244607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:48992072 (GRCh38)
4:48994089 (GRCh37)
Canonical SPDI:: NC_000004.12:48992071:C:T
Gene:: CWH43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.48992072C>T, NC_000004.11:g.48994089C>T, XM_011513756.4:c.412C>T, XM_011513756.3:c.412C>T, XM_011513756.2:c.412C>T, XM_011513756.1:c.412C>T, XM_011513757.3:c.412C>T, XM_011513757.2:c.412C>T, XM_011513757.1:c.412C>T, NM_025087.3:c.493C>T, NM_025087.2:c.493C>T, XM_011513755.2:c.493C>T, XM_011513755.1:c.493C>T, NM_001286791.2:c.412C>T, NM_001286791.1:c.412C>T, XM_011513758.2:c.493C>T, XM_011513758.1:c.493C>T, XP_011512058.1:p.Leu138Phe, XP_011512059.1:p.Leu138Phe, NP_079363.2:p.Leu165Phe, XP_011512057.1:p.Leu165Phe, NP_001273720.1:p.Leu138Phe, XP_011512060.1:p.Leu165Phe

Select item 147334899915.

rs1473348999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:49032571 (GRCh38)
4:49034588 (GRCh37)
Canonical SPDI:: NC_000004.12:49032570:T:C
Gene:: CWH43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000004.12:g.49032571T>C, NC_000004.11:g.49034588T>C, XM_011513756.4:c.1433T>C, XM_011513756.3:c.1433T>C, XM_011513756.2:c.1433T>C, XM_011513756.1:c.1433T>C, XM_011513757.3:c.1433T>C, XM_011513757.2:c.1433T>C, XM_011513757.1:c.1433T>C, NM_025087.3:c.1514T>C, NM_025087.2:c.1514T>C, XM_011513755.2:c.1514T>C, XM_011513755.1:c.1514T>C, NM_001286791.2:c.1433T>C, NM_001286791.1:c.1433T>C, XM_011513758.2:c.1256T>C, XM_011513758.1:c.1256T>C, XM_011513759.1:c.950T>C, XP_011512058.1:p.Met478Thr, XP_011512059.1:p.Met478Thr, NP_079363.2:p.Met505Thr, XP_011512057.1:p.Met505Thr, NP_001273720.1:p.Met478Thr, XP_011512060.1:p.Met419Thr, XP_011512061.1:p.Met317Thr

Select item 147322451016.

rs1473224510 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:48991494 (GRCh38)
4:48993511 (GRCh37)
Canonical SPDI:: NC_000004.12:48991493:A:T
Gene:: CWH43 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.48991494A>T, NC_000004.11:g.48993511A>T, XM_011513756.4:c.195A>T, XM_011513756.3:c.195A>T, XM_011513756.2:c.195A>T, XM_011513756.1:c.195A>T, XM_011513757.3:c.195A>T, XM_011513757.2:c.195A>T, XM_011513757.1:c.195A>T, NM_025087.3:c.276A>T, NM_025087.2:c.276A>T, XM_011513755.2:c.276A>T, XM_011513755.1:c.276A>T, NM_001286791.2:c.195A>T, NM_001286791.1:c.195A>T, XM_011513758.2:c.276A>T, XM_011513758.1:c.276A>T, XM_011513759.1:c.-134A>T

Select item 146950990217.

rs1469509902 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGCTAT>- [Show Flanks]
Chromosome:: 4:49007230 (GRCh38)
4:49009247 (GRCh37)
Canonical SPDI:: NC_000004.12:49007227:ATATGCTAT:AT
Gene:: CWH43 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
HGVS:: NC_000004.12:g.49007230_49007236del, NC_000004.11:g.49009247_49009253del, XM_011513756.4:c.1009_1015del, XM_011513756.3:c.1009_1015del, XM_011513756.2:c.1009_1015del, XM_011513756.1:c.1009_1015del, XM_011513757.3:c.1009_1015del, XM_011513757.2:c.1009_1015del, XM_011513757.1:c.1009_1015del, NM_025087.3:c.1090_1096del, NM_025087.2:c.1090_1096del, XM_011513755.2:c.1090_1096del, XM_011513755.1:c.1090_1096del, NM_001286791.2:c.1009_1015del, NM_001286791.1:c.1009_1015del, XM_011513758.2:c.832_838del, XM_011513758.1:c.832_838del, XM_011513759.1:c.526_532del, XP_011512058.1:p.Met337fs, XP_011512059.1:p.Met337fs, NP_079363.2:p.Met364fs, XP_011512057.1:p.Met364fs, NP_001273720.1:p.Met337fs, XP_011512060.1:p.Met278fs, XP_011512061.1:p.Met176fs

Select item 146830460018.

rs1468304600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:49003827 (GRCh38)
4:49005844 (GRCh37)
Canonical SPDI:: NC_000004.12:49003826:C:A
Gene:: CWH43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.49003827C>A, NC_000004.11:g.49005844C>A, XM_011513756.4:c.814C>A, XM_011513756.3:c.814C>A, XM_011513756.2:c.814C>A, XM_011513756.1:c.814C>A, XM_011513757.3:c.814C>A, XM_011513757.2:c.814C>A, XM_011513757.1:c.814C>A, NM_025087.3:c.895C>A, NM_025087.2:c.895C>A, XM_011513755.2:c.895C>A, XM_011513755.1:c.895C>A, NM_001286791.2:c.814C>A, NM_001286791.1:c.814C>A, XM_011513759.1:c.331C>A, XP_011512058.1:p.Pro272Thr, XP_011512059.1:p.Pro272Thr, NP_079363.2:p.Pro299Thr, XP_011512057.1:p.Pro299Thr, NP_001273720.1:p.Pro272Thr, XP_011512061.1:p.Pro111Thr

Select item 146621193819.

rs1466211938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:48991473 (GRCh38)
4:48993490 (GRCh37)
Canonical SPDI:: NC_000004.12:48991472:G:A
Gene:: CWH43 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.48991473G>A, NC_000004.11:g.48993490G>A, XM_011513756.4:c.174G>A, XM_011513756.3:c.174G>A, XM_011513756.2:c.174G>A, XM_011513756.1:c.174G>A, XM_011513757.3:c.174G>A, XM_011513757.2:c.174G>A, XM_011513757.1:c.174G>A, NM_025087.3:c.255G>A, NM_025087.2:c.255G>A, XM_011513755.2:c.255G>A, XM_011513755.1:c.255G>A, NM_001286791.2:c.174G>A, NM_001286791.1:c.174G>A, XM_011513758.2:c.255G>A, XM_011513758.1:c.255G>A

Select item 146552588420.

rs1465525884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:49032697 (GRCh38)
4:49034714 (GRCh37)
Canonical SPDI:: NC_000004.12:49032696:C:T
Gene:: CWH43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.49032697C>T, NC_000004.11:g.49034714C>T, XM_011513756.4:c.1559C>T, XM_011513756.3:c.1559C>T, XM_011513756.2:c.1559C>T, XM_011513756.1:c.1559C>T, XM_011513757.3:c.1559C>T, XM_011513757.2:c.1559C>T, XM_011513757.1:c.1559C>T, NM_025087.3:c.1640C>T, NM_025087.2:c.1640C>T, XM_011513755.2:c.1640C>T, XM_011513755.1:c.1640C>T, NM_001286791.2:c.1559C>T, NM_001286791.1:c.1559C>T, XM_011513758.2:c.1382C>T, XM_011513758.1:c.1382C>T, XM_011513759.1:c.1076C>T, XP_011512058.1:p.Thr520Ile, XP_011512059.1:p.Thr520Ile, NP_079363.2:p.Thr547Ile, XP_011512057.1:p.Thr547Ile, NP_001273720.1:p.Thr520Ile, XP_011512060.1:p.Thr461Ile, XP_011512061.1:p.Thr359Ile

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 751

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