Canonical Allele Identifier: CA2839249

Gene: WFS1

Linked Data

• ClinVar Variation Id: 666955
• ClinVar RCV Id: RCV000825500 ; RCV001858397 ; RCV002509559
• dbSNP Id: rs769744865
• ExAC: 4:6302706 T / A
• gnomAD v2: 4-6302706-T-A
• gnomAD v3: 4-6300979-T-A
• gnomAD v4: 4-6300979-T-A
• MyVariant Identifiers: chr4:g.6302706T>A (hg19) ; chr4:g.6300979T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300979T>A , CM000666.2:g.6300979T>A	GRCh38
NC_000004.11:g.6302706T>A , CM000666.1:g.6302706T>A	GRCh37
NC_000004.10:g.6353607T>A	NCBI36
NG_011700.1:g.36130T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1220T>A	ENSP00000507852.1:p.Val407Asp
ENST00000683395.1:c.1161T>A
ENST00000684087.1:c.1184T>A	ENSP00000506978.1:p.Val395Asp
ENST00000506362.2:c.935T>A	ENSP00000424103.2:p.Val312Asp
ENST00000673642.1:c.843T>A	ENSP00000501242.1:p.Gly281=
ENST00000673991.1:c.1220T>A	ENSP00000501033.1:p.Val407Asp
ENST00000226760.5:c.1184T>A MANE Select	ENSP00000226760.1:p.Val395Asp
ENST00000503569.5:c.1184T>A	ENSP00000423337.1:p.Val395Asp
ENST00000507765.1:n.1369T>A
NM_001145853.1:c.1184T>A	NP_001139325.1:p.Val395Asp
NM_006005.3:c.1184T>A MANE Select	NP_005996.2:p.Val395Asp
XM_017008586.1:c.1193T>A	XP_016864075.1:p.Val398Asp