Canonical Allele Identifier: CA2838945

Gene: WFS1

Linked Data

• ClinVar Variation Id: 517586
• ClinVar RCV Id: RCV000605696 ; RCV000827309 ; RCV002509087
• dbSNP Id: rs563931269
• ExAC: 4:6293057 G / A
• gnomAD v2: 4-6293057-G-A
• gnomAD v3: 4-6291330-G-A
• gnomAD v4: 4-6291330-G-A
• MyVariant Identifiers: chr4:g.6293057G>A (hg19) ; chr4:g.6291330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291330G>A , CM000666.2:g.6291330G>A	GRCh38
NC_000004.11:g.6293057G>A , CM000666.1:g.6293057G>A	GRCh37
NC_000004.10:g.6343958G>A	NCBI36
NG_011700.1:g.26481G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.594G>A	ENSP00000507852.1:p.Ala198=
ENST00000683395.1:c.584G>A
ENST00000684087.1:c.594G>A	ENSP00000506978.1:p.Ala198=
ENST00000684700.1:c.594G>A	ENSP00000507806.1:p.Ala198=
ENST00000506362.2:c.345G>A	ENSP00000424103.2:p.Ala115=
ENST00000673642.1:c.393G>A	ENSP00000501242.1:p.Ala131=
ENST00000673991.1:c.594G>A	ENSP00000501033.1:p.Ala198=
ENST00000226760.5:c.594G>A MANE Select	ENSP00000226760.1:p.Ala198=
ENST00000503569.5:c.594G>A	ENSP00000423337.1:p.Ala198=
ENST00000506362.1:c.191G>A
ENST00000507765.1:n.779G>A
NM_001145853.1:c.594G>A	NP_001139325.1:p.Ala198=
NM_006005.3:c.594G>A MANE Select	NP_005996.2:p.Ala198=
XM_017008586.1:c.603G>A	XP_016864075.1:p.Ala201=