Canonical Allele Identifier: CA438368654

Gene: WFS1

Linked Data

• dbSNP Id: rs1289862156
• gnomAD v2: 4-6303436-G-A
• gnomAD v4: 4-6301709-G-A
• MyVariant Identifiers: chr4:g.6303436G>A (hg19) ; chr4:g.6301709G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301709G>A , CM000666.2:g.6301709G>A	GRCh38
NC_000004.11:g.6303436G>A , CM000666.1:g.6303436G>A	GRCh37
NC_000004.10:g.6354337G>A	NCBI36
NG_011700.1:g.36860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1950G>A	ENSP00000507852.1:p.Val650=
ENST00000683395.1:c.1891G>A
ENST00000684087.1:c.1914G>A	ENSP00000506978.1:p.Val638=
ENST00000506362.2:c.1665G>A	ENSP00000424103.2:p.Val555=
ENST00000673642.1:c.1573G>A	ENSP00000501242.1:n.1573G>A
ENST00000673991.1:c.1950G>A	ENSP00000501033.1:p.Val650=
ENST00000226760.5:c.1914G>A MANE Select	ENSP00000226760.1:p.Val638=
ENST00000503569.5:c.1914G>A	ENSP00000423337.1:p.Val638=
ENST00000507765.1:n.2099G>A
NM_001145853.1:c.1914G>A	NP_001139325.1:p.Val638=
NM_006005.3:c.1914G>A MANE Select	NP_005996.2:p.Val638=
XM_017008586.1:c.1923G>A	XP_016864075.1:p.Val641=