Canonical Allele Identifier: CA91794612

Gene: WFS1

Linked Data

• dbSNP Id: rs182608639
• gnomAD v2: 4-6293309-G-A
• gnomAD v3: 4-6291582-G-A
• gnomAD v4: 4-6291582-G-A
• MyVariant Identifiers: chr4:g.6293309G>A (hg19) ; chr4:g.6291582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291582G>A , CM000666.2:g.6291582G>A	GRCh38
NC_000004.11:g.6293309G>A , CM000666.1:g.6293309G>A	GRCh37
NC_000004.10:g.6344210G>A	NCBI36
NG_011700.1:g.26733G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.631+215G>A	ENSP00000507852.1:n.631+215G>A
ENST00000683395.1:c.608+228G>A
ENST00000684087.1:c.631+215G>A	ENSP00000506978.1:n.631+215G>A
ENST00000684700.1:c.*141G>A	ENSP00000507806.1:n.*141G>A
ENST00000506362.2:c.382+215G>A	ENSP00000424103.2:n.382+215G>A
ENST00000673642.1:c.430+215G>A	ENSP00000501242.1:n.430+215G>A
ENST00000673991.1:c.631+215G>A	ENSP00000501033.1:n.631+215G>A
ENST00000226760.5:c.631+215G>A MANE Select	ENSP00000226760.1:n.631+215G>A
ENST00000503569.5:c.631+215G>A	ENSP00000423337.1:n.631+215G>A
ENST00000506362.1:c.228+215G>A
ENST00000507765.1:n.816+215G>A
NM_001145853.1:c.631+215G>A	NP_001139325.1:n.631+215G>A
NM_006005.3:c.631+215G>A MANE Select	NP_005996.2:n.631+215G>A
XM_017008586.1:c.640+215G>A	XP_016864075.1:n.640+215G>A