Canonical Allele Identifier: CA91787399

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2200405
• ClinVar RCV Id: RCV002654712
• dbSNP Id: rs766861457
• gnomAD v2: 4-6279312-C-A
• gnomAD v3: 4-6277585-C-A
• gnomAD v4: 4-6277585-C-A
• MyVariant Identifiers: chr4:g.6279312C>A (hg19) ; chr4:g.6277585C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6277585C>A , CM000666.2:g.6277585C>A	GRCh38
NC_000004.11:g.6279312C>A , CM000666.1:g.6279312C>A	GRCh37
NC_000004.10:g.6330213C>A	NCBI36
NG_011700.1:g.12736C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000506588.6:n.300C>A
ENST00000682059.1:c.130C>A	ENSP00000507988.1:p.Pro44Thr
ENST00000682275.1:c.130C>A	ENSP00000507852.1:p.Pro44Thr
ENST00000683395.1:c.120C>A
ENST00000684054.1:c.130C>A	ENSP00000507120.1:p.Pro44Thr
ENST00000684087.1:c.130C>A	ENSP00000506978.1:p.Pro44Thr
ENST00000684700.1:c.130C>A	ENSP00000507806.1:p.Pro44Thr
ENST00000506362.2:c.-18+7571C>A	ENSP00000424103.2:n.-18+7571C>A
ENST00000673991.1:c.130C>A	ENSP00000501033.1:p.Pro44Thr
ENST00000674051.1:c.67-63C>A	ENSP00000501083.1:n.67-63C>A
ENST00000226760.5:c.130C>A MANE Select	ENSP00000226760.1:p.Pro44Thr
ENST00000503569.5:c.130C>A	ENSP00000423337.1:p.Pro44Thr
ENST00000506588.5:n.300C>A
NM_001145853.1:c.130C>A	NP_001139325.1:p.Pro44Thr
NM_006005.3:c.130C>A MANE Select	NP_005996.2:p.Pro44Thr
XM_017008586.1:c.139C>A	XP_016864075.1:p.Pro47Thr