Canonical Allele Identifier: CA136334
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 45435
dbSNP Id: rs397517195
gnomAD v2: 4-6279325-C-T
gnomAD v3: 4-6277598-C-T
gnomAD v4: 4-6277598-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6277598C>T , CM000666.2:g.6277598C>T GRCh38
NC_000004.11:g.6279325C>T , CM000666.1:g.6279325C>T GRCh37
NC_000004.10:g.6330226C>T NCBI36
NG_011700.1:g.12749C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000506588.6:n.313C>T
ENST00000682059.1:c.143C>T ENSP00000507988.1:p.Ala48Val
ENST00000682275.1:c.143C>T ENSP00000507852.1:p.Ala48Val
ENST00000683395.1:c.133C>T
ENST00000684054.1:c.143C>T ENSP00000507120.1:p.Ala48Val
ENST00000684087.1:c.143C>T ENSP00000506978.1:p.Ala48Val
ENST00000684700.1:c.143C>T ENSP00000507806.1:p.Ala48Val
ENST00000506362.2:c.-18+7584C>T ENSP00000424103.2:n.-18+7584C>T
ENST00000673991.1:c.143C>T ENSP00000501033.1:p.Ala48Val
ENST00000674051.1:c.67-50C>T ENSP00000501083.1:n.67-50C>T
ENST00000226760.5:c.143C>T MANE Select ENSP00000226760.1:p.Ala48Val
ENST00000503569.5:c.143C>T ENSP00000423337.1:p.Ala48Val
ENST00000506588.5:n.313C>T
NM_001145853.1:c.143C>T NP_001139325.1:p.Ala48Val
NM_006005.3:c.143C>T MANE Select NP_005996.2:p.Ala48Val
XM_017008586.1:c.152C>T XP_016864075.1:p.Ala51Val