Canonical Allele Identifier: CA356174795

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2579941
• ClinVar RCV Id: RCV003328916
• dbSNP Id: rs398123066
• MyVariant Identifiers: chr4:g.6302907A>C (hg19) ; chr4:g.6301180A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301180A>C , CM000666.2:g.6301180A>C	GRCh38
NC_000004.11:g.6302907A>C , CM000666.1:g.6302907A>C	GRCh37
NC_000004.10:g.6353808A>C	NCBI36
NG_011700.1:g.36331A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1421A>C	ENSP00000507852.1:p.Glu474Ala
ENST00000683395.1:c.1362A>C
ENST00000684087.1:c.1385A>C	ENSP00000506978.1:p.Glu462Ala
ENST00000506362.2:c.1136A>C	ENSP00000424103.2:p.Glu379Ala
ENST00000673642.1:c.1044A>C	ENSP00000501242.1:p.Arg348=
ENST00000673991.1:c.1421A>C	ENSP00000501033.1:p.Glu474Ala
ENST00000226760.5:c.1385A>C MANE Select	ENSP00000226760.1:p.Glu462Ala
ENST00000503569.5:c.1385A>C	ENSP00000423337.1:p.Glu462Ala
ENST00000507765.1:n.1570A>C
NM_001145853.1:c.1385A>C	NP_001139325.1:p.Glu462Ala
NM_006005.3:c.1385A>C MANE Select	NP_005996.2:p.Glu462Ala
XM_017008586.1:c.1394A>C	XP_016864075.1:p.Glu465Ala