Canonical Allele Identifier: CA438368583

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2138993
• ClinVar RCV Id: RCV003066480
• dbSNP Id: rs1383526970
• gnomAD v3: 4-6301361-G-A
• gnomAD v4: 4-6301361-G-A
• MyVariant Identifiers: chr4:g.6303088G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301361G>A , CM000666.2:g.6301361G>A	GRCh38
NC_000004.11:g.6303088G>A , CM000666.1:g.6303088G>A	GRCh37
NC_000004.10:g.6353989G>A	NCBI36
NG_011700.1:g.36512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1602G>A	ENSP00000507852.1:p.Arg534=
ENST00000683395.1:c.1543G>A
ENST00000684087.1:c.1566G>A	ENSP00000506978.1:p.Arg522=
ENST00000506362.2:c.1317G>A	ENSP00000424103.2:p.Arg439=
ENST00000673642.1:c.1225G>A	ENSP00000501242.1:p.Glu409Lys
ENST00000673991.1:c.1602G>A	ENSP00000501033.1:p.Arg534=
ENST00000226760.5:c.1566G>A MANE Select	ENSP00000226760.1:p.Arg522=
ENST00000503569.5:c.1566G>A	ENSP00000423337.1:p.Arg522=
ENST00000507765.1:n.1751G>A
NM_001145853.1:c.1566G>A	NP_001139325.1:p.Arg522=
NM_006005.3:c.1566G>A MANE Select	NP_005996.2:p.Arg522=
XM_017008586.1:c.1575G>A	XP_016864075.1:p.Arg525=