Canonical Allele Identifier: CA2839601
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1373337
ClinVar RCV Id: RCV001900340
dbSNP Id: rs71532862
gnomAD v2: 4-6303626-G-A
gnomAD v3: 4-6301899-G-A
gnomAD v4: 4-6301899-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301899G>A , CM000666.2:g.6301899G>A GRCh38
NC_000004.11:g.6303626G>A , CM000666.1:g.6303626G>A GRCh37
NC_000004.10:g.6354527G>A NCBI36
NG_011700.1:g.37050G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.2140G>A ENSP00000507852.1:p.Gly714Ser
ENST00000683395.1:c.2081G>A
ENST00000684087.1:c.2104G>A ENSP00000506978.1:p.Gly702Ser
ENST00000506362.2:c.1855G>A ENSP00000424103.2:p.Gly619Ser
ENST00000673642.1:c.1763G>A ENSP00000501242.1:n.1763G>A
ENST00000673991.1:c.2140G>A ENSP00000501033.1:p.Gly714Ser
ENST00000226760.5:c.2104G>A MANE Select ENSP00000226760.1:p.Gly702Ser
ENST00000503569.5:c.2104G>A ENSP00000423337.1:p.Gly702Ser
ENST00000507765.1:n.2289G>A
NM_001145853.1:c.2104G>A NP_001139325.1:p.Gly702Ser
NM_006005.3:c.2104G>A MANE Select NP_005996.2:p.Gly702Ser
XM_017008586.1:c.2113G>A XP_016864075.1:p.Gly705Ser