Canonical Allele Identifier: CA2839461

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1951829
• ClinVar RCV Id: RCV002676520
• dbSNP Id: rs143500912
• ExAC: 4:6303250 C / A
• gnomAD v2: 4-6303250-C-A
• gnomAD v4: 4-6301523-C-A
• MyVariant Identifiers: chr4:g.6303250C>A (hg19) ; chr4:g.6301523C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301523C>A , CM000666.2:g.6301523C>A	GRCh38
NC_000004.11:g.6303250C>A , CM000666.1:g.6303250C>A	GRCh37
NC_000004.10:g.6354151C>A	NCBI36
NG_011700.1:g.36674C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1764C>A	ENSP00000507852.1:p.Gly588=
ENST00000683395.1:c.1705C>A
ENST00000684087.1:c.1728C>A	ENSP00000506978.1:p.Gly576=
ENST00000506362.2:c.1479C>A	ENSP00000424103.2:p.Gly493=
ENST00000673642.1:c.1387C>A	ENSP00000501242.1:n.1387C>A
ENST00000673991.1:c.1764C>A	ENSP00000501033.1:p.Gly588=
ENST00000226760.5:c.1728C>A MANE Select	ENSP00000226760.1:p.Gly576=
ENST00000503569.5:c.1728C>A	ENSP00000423337.1:p.Gly576=
ENST00000507765.1:n.1913C>A
NM_001145853.1:c.1728C>A	NP_001139325.1:p.Gly576=
NM_006005.3:c.1728C>A MANE Select	NP_005996.2:p.Gly576=
XM_017008586.1:c.1737C>A	XP_016864075.1:p.Gly579=