Canonical Allele Identifier: CA356175128

Gene: WFS1

Linked Data

• dbSNP Id: rs760692398
• gnomAD v2: 4-6303002-G-C
• gnomAD v4: 4-6301275-G-C
• MyVariant Identifiers: chr4:g.6303002G>C (hg19) ; chr4:g.6301275G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301275G>C , CM000666.2:g.6301275G>C	GRCh38
NC_000004.11:g.6303002G>C , CM000666.1:g.6303002G>C	GRCh37
NC_000004.10:g.6353903G>C	NCBI36
NG_011700.1:g.36426G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1516G>C	ENSP00000507852.1:p.Gly506Arg
ENST00000683395.1:c.1457G>C
ENST00000684087.1:c.1480G>C	ENSP00000506978.1:p.Gly494Arg
ENST00000506362.2:c.1231G>C	ENSP00000424103.2:p.Gly411Arg
ENST00000673642.1:c.1139G>C	ENSP00000501242.1:p.Arg380Pro
ENST00000673991.1:c.1516G>C	ENSP00000501033.1:p.Gly506Arg
ENST00000226760.5:c.1480G>C MANE Select	ENSP00000226760.1:p.Gly494Arg
ENST00000503569.5:c.1480G>C	ENSP00000423337.1:p.Gly494Arg
ENST00000507765.1:n.1665G>C
NM_001145853.1:c.1480G>C	NP_001139325.1:p.Gly494Arg
NM_006005.3:c.1480G>C MANE Select	NP_005996.2:p.Gly494Arg
XM_017008586.1:c.1489G>C	XP_016864075.1:p.Gly497Arg