Canonical Allele Identifier: CA438211479

Gene: WFS1

Linked Data

• dbSNP Id: rs1439220003
• gnomAD v2: 4-6302467-G-A
• gnomAD v4: 4-6300740-G-A
• MyVariant Identifiers: chr4:g.6302467G>A (hg19) ; chr4:g.6300740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300740G>A , CM000666.2:g.6300740G>A	GRCh38
NC_000004.11:g.6302467G>A , CM000666.1:g.6302467G>A	GRCh37
NC_000004.10:g.6353368G>A	NCBI36
NG_011700.1:g.35891G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.981G>A	ENSP00000507852.1:p.Leu327=
ENST00000683395.1:c.922G>A
ENST00000684087.1:c.945G>A	ENSP00000506978.1:p.Leu315=
ENST00000506362.2:c.696G>A	ENSP00000424103.2:p.Leu232=
ENST00000673642.1:c.661-57G>A	ENSP00000501242.1:n.661-57G>A
ENST00000673991.1:c.981G>A	ENSP00000501033.1:p.Leu327=
ENST00000226760.5:c.945G>A MANE Select	ENSP00000226760.1:p.Leu315=
ENST00000503569.5:c.945G>A	ENSP00000423337.1:p.Leu315=
ENST00000506362.1:c.578G>A
ENST00000507765.1:n.1130G>A
ENST00000513395.1:n.503G>A
NM_001145853.1:c.945G>A	NP_001139325.1:p.Leu315=
NM_006005.3:c.945G>A MANE Select	NP_005996.2:p.Leu315=
XM_017008586.1:c.954G>A	XP_016864075.1:p.Leu318=