Canonical Allele Identifier: CA356174990

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1353110
• ClinVar RCV Id: RCV001869914
• dbSNP Id: rs373656898
• MyVariant Identifiers: chr4:g.6302968G>C (hg19) ; chr4:g.6301241G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301241G>C , CM000666.2:g.6301241G>C	GRCh38
NC_000004.11:g.6302968G>C , CM000666.1:g.6302968G>C	GRCh37
NC_000004.10:g.6353869G>C	NCBI36
NG_011700.1:g.36392G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1482G>C	ENSP00000507852.1:p.Lys494Asn
ENST00000683395.1:c.1423G>C
ENST00000684087.1:c.1446G>C	ENSP00000506978.1:p.Lys482Asn
ENST00000506362.2:c.1197G>C	ENSP00000424103.2:p.Lys399Asn
ENST00000673642.1:c.1105G>C	ENSP00000501242.1:p.Gly369Arg
ENST00000673991.1:c.1482G>C	ENSP00000501033.1:p.Lys494Asn
ENST00000226760.5:c.1446G>C MANE Select	ENSP00000226760.1:p.Lys482Asn
ENST00000503569.5:c.1446G>C	ENSP00000423337.1:p.Lys482Asn
ENST00000507765.1:n.1631G>C
NM_001145853.1:c.1446G>C	NP_001139325.1:p.Lys482Asn
NM_006005.3:c.1446G>C MANE Select	NP_005996.2:p.Lys482Asn
XM_017008586.1:c.1455G>C	XP_016864075.1:p.Lys485Asn