Canonical Allele Identifier: CA321171
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6301452G>A
GRCh37 chr4:g.6303179G>A
Revel Score:
ENST00000503569 0.215
ENST00000226760 (MANE Select) 0.215
gnomAD v2:
4:6303179 G / A
gnomAD v3:
4:6301452 G / A
gnomAD v4:
chr4-6301452-G-A
Joint Max Group AF 0.00020674 (AMR)
Genomes Max Group AF 0.00005841 (NFE)
Exomes Max Group AF 0.00024153 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301452G>A , CM000666.2:g.6301452G>A GRCh38
NC_000004.11:g.6303179G>A , CM000666.1:g.6303179G>A GRCh37
NC_000004.10:g.6354080G>A NCBI36
NG_011700.1:g.36603G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1693G>A ENSP00000507852.1:p.Gly565Ser
ENST00000683395.1:c.1634G>A
ENST00000684087.1:c.1657G>A ENSP00000506978.1:p.Gly553Ser
ENST00000506362.2:c.1408G>A ENSP00000424103.2:p.Gly470Ser
ENST00000673642.1:c.1316G>A ENSP00000501242.1:n.1316G>A
ENST00000673991.1:c.1693G>A ENSP00000501033.1:p.Gly565Ser
ENST00000226760.5:c.1657G>A MANE Select ENSP00000226760.1:p.Gly553Ser
ENST00000503569.5:c.1657G>A ENSP00000423337.1:p.Gly553Ser
ENST00000507765.1:n.1842G>A
NM_001145853.1:c.1657G>A NP_001139325.1:p.Gly553Ser
NM_006005.3:c.1657G>A MANE Select NP_005996.2:p.Gly553Ser
XM_017008586.1:c.1666G>A XP_016864075.1:p.Gly556Ser
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