Canonical Allele Identifier: CA2839152
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1057020
ClinVar RCV Id: RCV001365933
dbSNP Id: rs371645500
gnomAD v2: 4-6302442-C-T
gnomAD v3: 4-6300715-C-T
gnomAD v4: 4-6300715-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300715C>T , CM000666.2:g.6300715C>T GRCh38
NC_000004.11:g.6302442C>T , CM000666.1:g.6302442C>T GRCh37
NC_000004.10:g.6353343C>T NCBI36
NG_011700.1:g.35866C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.956C>T ENSP00000507852.1:p.Ala319Val
ENST00000683395.1:c.897C>T
ENST00000684087.1:c.920C>T ENSP00000506978.1:p.Ala307Val
ENST00000506362.2:c.671C>T ENSP00000424103.2:p.Ala224Val
ENST00000673642.1:c.661-82C>T ENSP00000501242.1:n.661-82C>T
ENST00000673991.1:c.956C>T ENSP00000501033.1:p.Ala319Val
ENST00000226760.5:c.920C>T MANE Select ENSP00000226760.1:p.Ala307Val
ENST00000503569.5:c.920C>T ENSP00000423337.1:p.Ala307Val
ENST00000506362.1:c.553C>T
ENST00000507765.1:n.1105C>T
ENST00000513395.1:n.478C>T
NM_001145853.1:c.920C>T NP_001139325.1:p.Ala307Val
NM_006005.3:c.920C>T MANE Select NP_005996.2:p.Ala307Val
XM_017008586.1:c.929C>T XP_016864075.1:p.Ala310Val