Canonical Allele Identifier: CA91794579

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1347849
• ClinVar RCV Id: RCV002033208 ; RCV002506875
• dbSNP Id: rs142687752
• gnomAD v3: 4-6291329-C-T
• gnomAD v4: 4-6291329-C-T
• MyVariant Identifiers: chr4:g.6293056C>T (hg19) ; chr4:g.6291329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291329C>T , CM000666.2:g.6291329C>T	GRCh38
NC_000004.11:g.6293056C>T , CM000666.1:g.6293056C>T	GRCh37
NC_000004.10:g.6343957C>T	NCBI36
NG_011700.1:g.26480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.593C>T	ENSP00000507852.1:p.Ala198Val
ENST00000683395.1:c.583C>T
ENST00000684087.1:c.593C>T	ENSP00000506978.1:p.Ala198Val
ENST00000684700.1:c.593C>T	ENSP00000507806.1:p.Ala198Val
ENST00000506362.2:c.344C>T	ENSP00000424103.2:p.Ala115Val
ENST00000673642.1:c.392C>T	ENSP00000501242.1:p.Ala131Val
ENST00000673991.1:c.593C>T	ENSP00000501033.1:p.Ala198Val
ENST00000226760.5:c.593C>T MANE Select	ENSP00000226760.1:p.Ala198Val
ENST00000503569.5:c.593C>T	ENSP00000423337.1:p.Ala198Val
ENST00000506362.1:c.190C>T
ENST00000507765.1:n.778C>T
NM_001145853.1:c.593C>T	NP_001139325.1:p.Ala198Val
NM_006005.3:c.593C>T MANE Select	NP_005996.2:p.Ala198Val
XM_017008586.1:c.602C>T	XP_016864075.1:p.Ala201Val