SNP Links for Protein (Select 1142736525) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 279

<< First< Prev

Page of 14

Next >Last >>

Select item 14904380231.

rs1490438023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:128987798 (GRCh38)
3:128706641 (GRCh37)
Canonical SPDI:: NC_000003.12:128987797:G:C
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128987798G>C, NC_000003.11:g.128706641G>C, NG_083128.1:g.963G>C, NM_020741.3:c.485C>G, NM_020741.2:c.485C>G, XM_011513050.3:c.581C>G, XM_011513050.2:c.581C>G, XM_011513050.1:c.527C>G, NM_001348523.2:c.149C>G, NM_001348523.1:c.149C>G, NM_001348522.2:c.149C>G, NM_001348522.1:c.149C>G, XM_017006945.2:c.581C>G, XM_017006945.1:c.581C>G, NM_001348521.2:c.-488C>G, NM_001348521.1:c.-488C>G, NM_001348520.2:c.-488C>G, NM_001348520.1:c.-488C>G, XM_047448637.1:c.581C>G, XM_047448640.1:c.-107C>G, XM_047448638.1:c.581C>G, NM_001394090.1:c.485C>G, XM_047448639.1:c.581C>G, NP_065792.1:p.Ala162Gly, XP_011511352.2:p.Ala194Gly, NP_001335452.1:p.Ala50Gly, NP_001335451.1:p.Ala50Gly, XP_016862434.1:p.Ala194Gly, XP_047304593.1:p.Ala194Gly, XP_047304594.1:p.Ala194Gly, NP_001381019.1:p.Ala162Gly, XP_047304595.1:p.Ala194Gly

Select item 14897622372.

rs1489762237 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:128975897 (GRCh38)
3:128694740 (GRCh37)
Canonical SPDI:: NC_000003.12:128975896:A:G
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128975897A>G, NC_000003.11:g.128694740A>G, NM_020741.3:c.903T>C, NM_020741.2:c.903T>C, XM_011513050.3:c.999T>C, XM_011513050.2:c.999T>C, XM_011513050.1:c.945T>C, NM_001348523.2:c.567T>C, NM_001348523.1:c.567T>C, NM_001348522.2:c.567T>C, NM_001348522.1:c.567T>C, XM_017006945.2:c.999T>C, XM_017006945.1:c.999T>C, NM_001348521.2:c.30T>C, NM_001348521.1:c.30T>C, NM_001348520.2:c.30T>C, NM_001348520.1:c.30T>C, XM_047448637.1:c.999T>C, XM_047448640.1:c.312T>C, XM_047448638.1:c.999T>C, NM_001394090.1:c.903T>C, XM_047448639.1:c.999T>C

Select item 14879809203.

rs1487980920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:128975883 (GRCh38)
3:128694726 (GRCh37)
Canonical SPDI:: NC_000003.12:128975882:G:A
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128975883G>A, NC_000003.11:g.128694726G>A, NM_020741.3:c.917C>T, NM_020741.2:c.917C>T, XM_011513050.3:c.1013C>T, XM_011513050.2:c.1013C>T, XM_011513050.1:c.959C>T, NM_001348523.2:c.581C>T, NM_001348523.1:c.581C>T, NM_001348522.2:c.581C>T, NM_001348522.1:c.581C>T, XM_017006945.2:c.1013C>T, XM_017006945.1:c.1013C>T, NM_001348521.2:c.44C>T, NM_001348521.1:c.44C>T, NM_001348520.2:c.44C>T, NM_001348520.1:c.44C>T, XM_047448637.1:c.1013C>T, XM_047448640.1:c.326C>T, XM_047448638.1:c.1013C>T, NM_001394090.1:c.917C>T, XM_047448639.1:c.1013C>T, NP_065792.1:p.Pro306Leu, XP_011511352.2:p.Pro338Leu, NP_001335452.1:p.Pro194Leu, NP_001335451.1:p.Pro194Leu, XP_016862434.1:p.Pro338Leu, NP_001335450.1:p.Pro15Leu, NP_001335449.1:p.Pro15Leu, XP_047304593.1:p.Pro338Leu, XP_047304596.1:p.Pro109Leu, XP_047304594.1:p.Pro338Leu, NP_001381019.1:p.Pro306Leu, XP_047304595.1:p.Pro338Leu

Select item 14867921804.

rs1486792180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:128987781 (GRCh38)
3:128706624 (GRCh37)
Canonical SPDI:: NC_000003.12:128987780:G:A
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.128987781G>A, NC_000003.11:g.128706624G>A, NG_083128.1:g.946G>A, NM_020741.3:c.502C>T, NM_020741.2:c.502C>T, XM_011513050.3:c.598C>T, XM_011513050.2:c.598C>T, XM_011513050.1:c.544C>T, NM_001348523.2:c.166C>T, NM_001348523.1:c.166C>T, NM_001348522.2:c.166C>T, NM_001348522.1:c.166C>T, XM_017006945.2:c.598C>T, XM_017006945.1:c.598C>T, NM_001348521.2:c.-471C>T, NM_001348521.1:c.-471C>T, NM_001348520.2:c.-471C>T, NM_001348520.1:c.-471C>T, XM_047448637.1:c.598C>T, XM_047448640.1:c.-90C>T, XM_047448638.1:c.598C>T, NM_001394090.1:c.502C>T, XM_047448639.1:c.598C>T, NP_065792.1:p.Gln168Ter, XP_011511352.2:p.Gln200Ter, NP_001335452.1:p.Gln56Ter, NP_001335451.1:p.Gln56Ter, XP_016862434.1:p.Gln200Ter, XP_047304593.1:p.Gln200Ter, XP_047304594.1:p.Gln200Ter, NP_001381019.1:p.Gln168Ter, XP_047304595.1:p.Gln200Ter

Select item 14830483035.

rs1483048303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:128976982 (GRCh38)
3:128695825 (GRCh37)
Canonical SPDI:: NC_000003.12:128976981:A:G
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128976982A>G, NC_000003.11:g.128695825A>G, NM_020741.3:c.893T>C, NM_020741.2:c.893T>C, XM_011513050.3:c.989T>C, XM_011513050.2:c.989T>C, XM_011513050.1:c.935T>C, NM_001348523.2:c.557T>C, NM_001348523.1:c.557T>C, NM_001348522.2:c.557T>C, NM_001348522.1:c.557T>C, XM_017006945.2:c.989T>C, XM_017006945.1:c.989T>C, NM_001348521.2:c.20T>C, NM_001348521.1:c.20T>C, NM_001348520.2:c.20T>C, NM_001348520.1:c.20T>C, XM_047448637.1:c.989T>C, XM_047448640.1:c.302T>C, XM_047448638.1:c.989T>C, NM_001394090.1:c.893T>C, XM_047448639.1:c.989T>C, NP_065792.1:p.Ile298Thr, XP_011511352.2:p.Ile330Thr, NP_001335452.1:p.Ile186Thr, NP_001335451.1:p.Ile186Thr, XP_016862434.1:p.Ile330Thr, NP_001335450.1:p.Ile7Thr, NP_001335449.1:p.Ile7Thr, XP_047304593.1:p.Ile330Thr, XP_047304596.1:p.Ile101Thr, XP_047304594.1:p.Ile330Thr, NP_001381019.1:p.Ile298Thr, XP_047304595.1:p.Ile330Thr

Select item 14828787696.

rs1482878769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:128977049 (GRCh38)
3:128695892 (GRCh37)
Canonical SPDI:: NC_000003.12:128977048:G:T
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.128977049G>T, NC_000003.11:g.128695892G>T, NM_020741.3:c.826C>A, NM_020741.2:c.826C>A, XM_011513050.3:c.922C>A, XM_011513050.2:c.922C>A, XM_011513050.1:c.868C>A, NM_001348523.2:c.490C>A, NM_001348523.1:c.490C>A, NM_001348522.2:c.490C>A, NM_001348522.1:c.490C>A, XM_017006945.2:c.922C>A, XM_017006945.1:c.922C>A, NM_001348521.2:c.-48C>A, NM_001348521.1:c.-48C>A, NM_001348520.2:c.-48C>A, NM_001348520.1:c.-48C>A, XM_047448637.1:c.922C>A, XM_047448640.1:c.235C>A, XM_047448638.1:c.922C>A, NM_001394090.1:c.826C>A, XM_047448639.1:c.922C>A, NP_065792.1:p.Pro276Thr, XP_011511352.2:p.Pro308Thr, NP_001335452.1:p.Pro164Thr, NP_001335451.1:p.Pro164Thr, XP_016862434.1:p.Pro308Thr, XP_047304593.1:p.Pro308Thr, XP_047304596.1:p.Pro79Thr, XP_047304594.1:p.Pro308Thr, NP_001381019.1:p.Pro276Thr, XP_047304595.1:p.Pro308Thr

Select item 14827861207.

rs1482786120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:128978184 (GRCh38)
3:128697027 (GRCh37)
Canonical SPDI:: NC_000003.12:128978183:T:G
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.128978184T>G, NC_000003.11:g.128697027T>G, NM_020741.3:c.669A>C, NM_020741.2:c.669A>C, XM_011513050.3:c.765A>C, XM_011513050.2:c.765A>C, XM_011513050.1:c.711A>C, NM_001348523.2:c.333A>C, NM_001348523.1:c.333A>C, NM_001348522.2:c.333A>C, NM_001348522.1:c.333A>C, XM_017006945.2:c.765A>C, XM_017006945.1:c.765A>C, NM_001348521.2:c.-205A>C, NM_001348521.1:c.-205A>C, NM_001348520.2:c.-205A>C, NM_001348520.1:c.-205A>C, XM_047448637.1:c.765A>C, XM_047448640.1:c.78A>C, XM_047448638.1:c.765A>C, NM_001394090.1:c.669A>C, XM_047448639.1:c.765A>C, NP_065792.1:p.Glu223Asp, XP_011511352.2:p.Glu255Asp, NP_001335452.1:p.Glu111Asp, NP_001335451.1:p.Glu111Asp, XP_016862434.1:p.Glu255Asp, XP_047304593.1:p.Glu255Asp, XP_047304596.1:p.Glu26Asp, XP_047304594.1:p.Glu255Asp, NP_001381019.1:p.Glu223Asp, XP_047304595.1:p.Glu255Asp

Select item 14821084418.

rs1482108441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:128988784 (GRCh38)
3:128707627 (GRCh37)
Canonical SPDI:: NC_000003.12:128988783:C:T
Gene:: CFAP92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128988784C>T, NC_000003.11:g.128707627C>T, NM_020741.3:c.397G>A, NM_020741.2:c.397G>A, XM_011513050.3:c.493G>A, XM_011513050.2:c.493G>A, XM_011513050.1:c.439G>A, NM_001348523.2:c.61G>A, NM_001348523.1:c.61G>A, NM_001348522.2:c.61G>A, NM_001348522.1:c.61G>A, XM_017006945.2:c.493G>A, XM_017006945.1:c.493G>A, XM_047448637.1:c.493G>A, XM_047448638.1:c.493G>A, NM_001394090.1:c.397G>A, XM_047448639.1:c.493G>A, NP_065792.1:p.Val133Ile, XP_011511352.2:p.Val165Ile, NP_001335452.1:p.Val21Ile, NP_001335451.1:p.Val21Ile, XP_016862434.1:p.Val165Ile, XP_047304593.1:p.Val165Ile, XP_047304594.1:p.Val165Ile, NP_001381019.1:p.Val133Ile, XP_047304595.1:p.Val165Ile

Select item 14817524319.

rs1481752431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:128971389 (GRCh38)
3:128690232 (GRCh37)
Canonical SPDI:: NC_000003.12:128971388:G:A
Gene:: CFAP92 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128971389G>A, NC_000003.11:g.128690232G>A, NM_020741.3:c.1066C>T, NM_020741.2:c.1066C>T, XM_011513050.3:c.1162C>T, XM_011513050.2:c.1162C>T, XM_011513050.1:c.1108C>T, NM_001348523.2:c.730C>T, NM_001348523.1:c.730C>T, NM_001348522.2:c.730C>T, NM_001348522.1:c.730C>T, XM_017006945.2:c.1162C>T, XM_017006945.1:c.1162C>T, NM_001348521.2:c.193C>T, NM_001348521.1:c.193C>T, NM_001348520.2:c.193C>T, NM_001348520.1:c.193C>T, XM_047448637.1:c.1162C>T, XM_047448640.1:c.475C>T, XM_047448638.1:c.1162C>T, NM_001394090.1:c.1066C>T, XM_047448639.1:c.1162C>T, NP_065792.1:p.His356Tyr, XP_011511352.2:p.His388Tyr, NP_001335452.1:p.His244Tyr, NP_001335451.1:p.His244Tyr, XP_016862434.1:p.His388Tyr, NP_001335450.1:p.His65Tyr, NP_001335449.1:p.His65Tyr, XP_047304593.1:p.His388Tyr, XP_047304596.1:p.His159Tyr, XP_047304594.1:p.His388Tyr, NP_001381019.1:p.His356Tyr, XP_047304595.1:p.His388Tyr

Select item 147526444210.

rs1475264442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:128971392 (GRCh38)
3:128690235 (GRCh37)
Canonical SPDI:: NC_000003.12:128971391:T:C
Gene:: CFAP92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128971392T>C, NC_000003.11:g.128690235T>C, NM_020741.3:c.1063A>G, NM_020741.2:c.1063A>G, XM_011513050.3:c.1159A>G, XM_011513050.2:c.1159A>G, XM_011513050.1:c.1105A>G, NM_001348523.2:c.727A>G, NM_001348523.1:c.727A>G, NM_001348522.2:c.727A>G, NM_001348522.1:c.727A>G, XM_017006945.2:c.1159A>G, XM_017006945.1:c.1159A>G, NM_001348521.2:c.190A>G, NM_001348521.1:c.190A>G, NM_001348520.2:c.190A>G, NM_001348520.1:c.190A>G, XM_047448637.1:c.1159A>G, XM_047448640.1:c.472A>G, XM_047448638.1:c.1159A>G, NM_001394090.1:c.1063A>G, XM_047448639.1:c.1159A>G, NP_065792.1:p.Arg355Gly, XP_011511352.2:p.Arg387Gly, NP_001335452.1:p.Arg243Gly, NP_001335451.1:p.Arg243Gly, XP_016862434.1:p.Arg387Gly, NP_001335450.1:p.Arg64Gly, NP_001335449.1:p.Arg64Gly, XP_047304593.1:p.Arg387Gly, XP_047304596.1:p.Arg158Gly, XP_047304594.1:p.Arg387Gly, NP_001381019.1:p.Arg355Gly, XP_047304595.1:p.Arg387Gly

Select item 147336733111.

rs1473367331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:128978155 (GRCh38)
3:128696998 (GRCh37)
Canonical SPDI:: NC_000003.12:128978154:T:C
Gene:: CFAP92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.128978155T>C, NC_000003.11:g.128696998T>C, NM_020741.3:c.698A>G, NM_020741.2:c.698A>G, XM_011513050.3:c.794A>G, XM_011513050.2:c.794A>G, XM_011513050.1:c.740A>G, NM_001348523.2:c.362A>G, NM_001348523.1:c.362A>G, NM_001348522.2:c.362A>G, NM_001348522.1:c.362A>G, XM_017006945.2:c.794A>G, XM_017006945.1:c.794A>G, NM_001348521.2:c.-176A>G, NM_001348521.1:c.-176A>G, NM_001348520.2:c.-176A>G, NM_001348520.1:c.-176A>G, XM_047448637.1:c.794A>G, XM_047448640.1:c.107A>G, XM_047448638.1:c.794A>G, NM_001394090.1:c.698A>G, XM_047448639.1:c.794A>G, NP_065792.1:p.Lys233Arg, XP_011511352.2:p.Lys265Arg, NP_001335452.1:p.Lys121Arg, NP_001335451.1:p.Lys121Arg, XP_016862434.1:p.Lys265Arg, XP_047304593.1:p.Lys265Arg, XP_047304596.1:p.Lys36Arg, XP_047304594.1:p.Lys265Arg, NP_001381019.1:p.Lys233Arg, XP_047304595.1:p.Lys265Arg

Select item 146113584712.

rs1461135847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:128976998 (GRCh38)
3:128695841 (GRCh37)
Canonical SPDI:: NC_000003.12:128976997:C:A
Gene:: CFAP92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.128976998C>A, NC_000003.11:g.128695841C>A, NM_020741.3:c.877G>T, NM_020741.2:c.877G>T, XM_011513050.3:c.973G>T, XM_011513050.2:c.973G>T, XM_011513050.1:c.919G>T, NM_001348523.2:c.541G>T, NM_001348523.1:c.541G>T, NM_001348522.2:c.541G>T, NM_001348522.1:c.541G>T, XM_017006945.2:c.973G>T, XM_017006945.1:c.973G>T, NM_001348521.2:c.4G>T, NM_001348521.1:c.4G>T, NM_001348520.2:c.4G>T, NM_001348520.1:c.4G>T, XM_047448637.1:c.973G>T, XM_047448640.1:c.286G>T, XM_047448638.1:c.973G>T, NM_001394090.1:c.877G>T, XM_047448639.1:c.973G>T, NP_065792.1:p.Asp293Tyr, XP_011511352.2:p.Asp325Tyr, NP_001335452.1:p.Asp181Tyr, NP_001335451.1:p.Asp181Tyr, XP_016862434.1:p.Asp325Tyr, NP_001335450.1:p.Asp2Tyr, NP_001335449.1:p.Asp2Tyr, XP_047304593.1:p.Asp325Tyr, XP_047304596.1:p.Asp96Tyr, XP_047304594.1:p.Asp325Tyr, NP_001381019.1:p.Asp293Tyr, XP_047304595.1:p.Asp325Tyr

Select item 145761943113.

rs1457619431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:128975860 (GRCh38)
3:128694703 (GRCh37)
Canonical SPDI:: NC_000003.12:128975859:T:C
Gene:: CFAP92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000003.12:g.128975860T>C, NC_000003.11:g.128694703T>C, NM_020741.3:c.940A>G, NM_020741.2:c.940A>G, XM_011513050.3:c.1036A>G, XM_011513050.2:c.1036A>G, XM_011513050.1:c.982A>G, NM_001348523.2:c.604A>G, NM_001348523.1:c.604A>G, NM_001348522.2:c.604A>G, NM_001348522.1:c.604A>G, XM_017006945.2:c.1036A>G, XM_017006945.1:c.1036A>G, NM_001348521.2:c.67A>G, NM_001348521.1:c.67A>G, NM_001348520.2:c.67A>G, NM_001348520.1:c.67A>G, XM_047448637.1:c.1036A>G, XM_047448640.1:c.349A>G, XM_047448638.1:c.1036A>G, NM_001394090.1:c.940A>G, XM_047448639.1:c.1036A>G, NP_065792.1:p.Ser314Gly, XP_011511352.2:p.Ser346Gly, NP_001335452.1:p.Ser202Gly, NP_001335451.1:p.Ser202Gly, XP_016862434.1:p.Ser346Gly, NP_001335450.1:p.Ser23Gly, NP_001335449.1:p.Ser23Gly, XP_047304593.1:p.Ser346Gly, XP_047304596.1:p.Ser117Gly, XP_047304594.1:p.Ser346Gly, NP_001381019.1:p.Ser314Gly, XP_047304595.1:p.Ser346Gly

Select item 145584931714.

rs1455849317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:128975842 (GRCh38)
3:128694685 (GRCh37)
Canonical SPDI:: NC_000003.12:128975841:C:T
Gene:: CFAP92 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128975842C>T, NC_000003.11:g.128694685C>T, NM_020741.3:c.958G>A, NM_020741.2:c.958G>A, XM_011513050.3:c.1054G>A, XM_011513050.2:c.1054G>A, XM_011513050.1:c.1000G>A, NM_001348523.2:c.622G>A, NM_001348523.1:c.622G>A, NM_001348522.2:c.622G>A, NM_001348522.1:c.622G>A, XM_017006945.2:c.1054G>A, XM_017006945.1:c.1054G>A, NM_001348521.2:c.85G>A, NM_001348521.1:c.85G>A, NM_001348520.2:c.85G>A, NM_001348520.1:c.85G>A, XM_047448637.1:c.1054G>A, XM_047448640.1:c.367G>A, XM_047448638.1:c.1054G>A, NM_001394090.1:c.958G>A, XM_047448639.1:c.1054G>A, NP_065792.1:p.Glu320Lys, XP_011511352.2:p.Glu352Lys, NP_001335452.1:p.Glu208Lys, NP_001335451.1:p.Glu208Lys, XP_016862434.1:p.Glu352Lys, NP_001335450.1:p.Glu29Lys, NP_001335449.1:p.Glu29Lys, XP_047304593.1:p.Glu352Lys, XP_047304596.1:p.Glu123Lys, XP_047304594.1:p.Glu352Lys, NP_001381019.1:p.Glu320Lys, XP_047304595.1:p.Glu352Lys

Select item 145202900715.

rs1452029007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:128977012 (GRCh38)
3:128695855 (GRCh37)
Canonical SPDI:: NC_000003.12:128977011:T:C
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.128977012T>C, NC_000003.11:g.128695855T>C, NM_020741.3:c.863A>G, NM_020741.2:c.863A>G, XM_011513050.3:c.959A>G, XM_011513050.2:c.959A>G, XM_011513050.1:c.905A>G, NM_001348523.2:c.527A>G, NM_001348523.1:c.527A>G, NM_001348522.2:c.527A>G, NM_001348522.1:c.527A>G, XM_017006945.2:c.959A>G, XM_017006945.1:c.959A>G, NM_001348521.2:c.-11A>G, NM_001348521.1:c.-11A>G, NM_001348520.2:c.-11A>G, NM_001348520.1:c.-11A>G, XM_047448637.1:c.959A>G, XM_047448640.1:c.272A>G, XM_047448638.1:c.959A>G, NM_001394090.1:c.863A>G, XM_047448639.1:c.959A>G, NP_065792.1:p.Lys288Arg, XP_011511352.2:p.Lys320Arg, NP_001335452.1:p.Lys176Arg, NP_001335451.1:p.Lys176Arg, XP_016862434.1:p.Lys320Arg, XP_047304593.1:p.Lys320Arg, XP_047304596.1:p.Lys91Arg, XP_047304594.1:p.Lys320Arg, NP_001381019.1:p.Lys288Arg, XP_047304595.1:p.Lys320Arg

Select item 145096531916.

rs1450965319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:128978126 (GRCh38)
3:128696969 (GRCh37)
Canonical SPDI:: NC_000003.12:128978125:T:C
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128978126T>C, NC_000003.11:g.128696969T>C, NM_020741.3:c.727A>G, NM_020741.2:c.727A>G, XM_011513050.3:c.823A>G, XM_011513050.2:c.823A>G, XM_011513050.1:c.769A>G, NM_001348523.2:c.391A>G, NM_001348523.1:c.391A>G, NM_001348522.2:c.391A>G, NM_001348522.1:c.391A>G, XM_017006945.2:c.823A>G, XM_017006945.1:c.823A>G, NM_001348521.2:c.-147A>G, NM_001348521.1:c.-147A>G, NM_001348520.2:c.-147A>G, NM_001348520.1:c.-147A>G, XM_047448637.1:c.823A>G, XM_047448640.1:c.136A>G, XM_047448638.1:c.823A>G, NM_001394090.1:c.727A>G, XM_047448639.1:c.823A>G, NP_065792.1:p.Asn243Asp, XP_011511352.2:p.Asn275Asp, NP_001335452.1:p.Asn131Asp, NP_001335451.1:p.Asn131Asp, XP_016862434.1:p.Asn275Asp, XP_047304593.1:p.Asn275Asp, XP_047304596.1:p.Asn46Asp, XP_047304594.1:p.Asn275Asp, NP_001381019.1:p.Asn243Asp, XP_047304595.1:p.Asn275Asp

Select item 144940636717.

rs1449406367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:128987718 (GRCh38)
3:128706561 (GRCh37)
Canonical SPDI:: NC_000003.12:128987717:A:G
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000212/4 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.001711/5 (KOREAN)
HGVS:: NC_000003.12:g.128987718A>G, NC_000003.11:g.128706561A>G, NG_083128.1:g.883A>G, NM_020741.3:c.565T>C, NM_020741.2:c.565T>C, XM_011513050.3:c.661T>C, XM_011513050.2:c.661T>C, XM_011513050.1:c.607T>C, NM_001348523.2:c.229T>C, NM_001348523.1:c.229T>C, NM_001348522.2:c.229T>C, NM_001348522.1:c.229T>C, XM_017006945.2:c.661T>C, XM_017006945.1:c.661T>C, NM_001348521.2:c.-408T>C, NM_001348521.1:c.-408T>C, NM_001348520.2:c.-408T>C, NM_001348520.1:c.-408T>C, XM_047448637.1:c.661T>C, XM_047448640.1:c.-27T>C, XM_047448638.1:c.661T>C, NM_001394090.1:c.565T>C, XM_047448639.1:c.661T>C

Select item 144186223218.

rs1441862232 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:128977046 (GRCh38)
3:128695889 (GRCh37)
Canonical SPDI:: NC_000003.12:128977045:C:T
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.128977046C>T, NC_000003.11:g.128695889C>T, NM_020741.3:c.829G>A, NM_020741.2:c.829G>A, XM_011513050.3:c.925G>A, XM_011513050.2:c.925G>A, XM_011513050.1:c.871G>A, NM_001348523.2:c.493G>A, NM_001348523.1:c.493G>A, NM_001348522.2:c.493G>A, NM_001348522.1:c.493G>A, XM_017006945.2:c.925G>A, XM_017006945.1:c.925G>A, NM_001348521.2:c.-45G>A, NM_001348521.1:c.-45G>A, NM_001348520.2:c.-45G>A, NM_001348520.1:c.-45G>A, XM_047448637.1:c.925G>A, XM_047448640.1:c.238G>A, XM_047448638.1:c.925G>A, NM_001394090.1:c.829G>A, XM_047448639.1:c.925G>A, NP_065792.1:p.Glu277Lys, XP_011511352.2:p.Glu309Lys, NP_001335452.1:p.Glu165Lys, NP_001335451.1:p.Glu165Lys, XP_016862434.1:p.Glu309Lys, XP_047304593.1:p.Glu309Lys, XP_047304596.1:p.Glu80Lys, XP_047304594.1:p.Glu309Lys, NP_001381019.1:p.Glu277Lys, XP_047304595.1:p.Glu309Lys

Select item 144027228719.

rs1440272287 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:128975797 (GRCh38)
3:128694640 (GRCh37)
Canonical SPDI:: NC_000003.12:128975796:C:A
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.128975797C>A, NC_000003.11:g.128694640C>A, NM_020741.3:c.1003G>T, NM_020741.2:c.1003G>T, XM_011513050.3:c.1099G>T, XM_011513050.2:c.1099G>T, XM_011513050.1:c.1045G>T, NM_001348523.2:c.667G>T, NM_001348523.1:c.667G>T, NM_001348522.2:c.667G>T, NM_001348522.1:c.667G>T, XM_017006945.2:c.1099G>T, XM_017006945.1:c.1099G>T, NM_001348521.2:c.130G>T, NM_001348521.1:c.130G>T, NM_001348520.2:c.130G>T, NM_001348520.1:c.130G>T, XM_047448637.1:c.1099G>T, XM_047448640.1:c.412G>T, XM_047448638.1:c.1099G>T, NM_001394090.1:c.1003G>T, XM_047448639.1:c.1099G>T, NP_065792.1:p.Asp335Tyr, XP_011511352.2:p.Asp367Tyr, NP_001335452.1:p.Asp223Tyr, NP_001335451.1:p.Asp223Tyr, XP_016862434.1:p.Asp367Tyr, NP_001335450.1:p.Asp44Tyr, NP_001335449.1:p.Asp44Tyr, XP_047304593.1:p.Asp367Tyr, XP_047304596.1:p.Asp138Tyr, XP_047304594.1:p.Asp367Tyr, NP_001381019.1:p.Asp335Tyr, XP_047304595.1:p.Asp367Tyr

Select item 143542107720.

rs1435421077 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:128975822 (GRCh38)
3:128694665 (GRCh37)
Canonical SPDI:: NC_000003.12:128975821:T:C
Gene:: CFAP92 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.128975822T>C, NC_000003.11:g.128694665T>C, NM_020741.3:c.978A>G, NM_020741.2:c.978A>G, XM_011513050.3:c.1074A>G, XM_011513050.2:c.1074A>G, XM_011513050.1:c.1020A>G, NM_001348523.2:c.642A>G, NM_001348523.1:c.642A>G, NM_001348522.2:c.642A>G, NM_001348522.1:c.642A>G, XM_017006945.2:c.1074A>G, XM_017006945.1:c.1074A>G, NM_001348521.2:c.105A>G, NM_001348521.1:c.105A>G, NM_001348520.2:c.105A>G, NM_001348520.1:c.105A>G, XM_047448637.1:c.1074A>G, XM_047448640.1:c.387A>G, XM_047448638.1:c.1074A>G, NM_001394090.1:c.978A>G, XM_047448639.1:c.1074A>G

<< First< Prev

Page of 14

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 1142736525) (279)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: