Canonical Allele Identifier: CA438368107

Gene: WFS1

Linked Data

• dbSNP Id: rs2109125383
• gnomAD v3: 4-6300941-G-A
• gnomAD v4: 4-6300941-G-A
• MyVariant Identifiers: chr4:g.6302668G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300941G>A , CM000666.2:g.6300941G>A	GRCh38
NC_000004.11:g.6302668G>A , CM000666.1:g.6302668G>A	GRCh37
NC_000004.10:g.6353569G>A	NCBI36
NG_011700.1:g.36092G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1182G>A	ENSP00000507852.1:p.Leu394=
ENST00000683395.1:c.1123G>A
ENST00000684087.1:c.1146G>A	ENSP00000506978.1:p.Leu382=
ENST00000506362.2:c.897G>A	ENSP00000424103.2:p.Leu299=
ENST00000673642.1:c.805G>A	ENSP00000501242.1:p.Ala269Thr
ENST00000673991.1:c.1182G>A	ENSP00000501033.1:p.Leu394=
ENST00000226760.5:c.1146G>A MANE Select	ENSP00000226760.1:p.Leu382=
ENST00000503569.5:c.1146G>A	ENSP00000423337.1:p.Leu382=
ENST00000507765.1:n.1331G>A
NM_001145853.1:c.1146G>A	NP_001139325.1:p.Leu382=
NM_006005.3:c.1146G>A MANE Select	NP_005996.2:p.Leu382=
XM_017008586.1:c.1155G>A	XP_016864075.1:p.Leu385=