Canonical Allele Identifier: CA2839202

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1585534
• ClinVar RCV Id: RCV002095475
• dbSNP Id: rs760462215
• ExAC: 4:6302569 C / T
• gnomAD v2: 4-6302569-C-T
• gnomAD v3: 4-6300842-C-T
• gnomAD v4: 4-6300842-C-T
• MyVariant Identifiers: chr4:g.6302569C>T (hg19) ; chr4:g.6300842C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300842C>T , CM000666.2:g.6300842C>T	GRCh38
NC_000004.11:g.6302569C>T , CM000666.1:g.6302569C>T	GRCh37
NC_000004.10:g.6353470C>T	NCBI36
NG_011700.1:g.35993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1083C>T	ENSP00000507852.1:p.Ile361=
ENST00000683395.1:c.1024C>T
ENST00000684087.1:c.1047C>T	ENSP00000506978.1:p.Ile349=
ENST00000506362.2:c.798C>T	ENSP00000424103.2:p.Ile266=
ENST00000673642.1:c.706C>T	ENSP00000501242.1:p.Leu236Phe
ENST00000673991.1:c.1083C>T	ENSP00000501033.1:p.Ile361=
ENST00000226760.5:c.1047C>T MANE Select	ENSP00000226760.1:p.Ile349=
ENST00000503569.5:c.1047C>T	ENSP00000423337.1:p.Ile349=
ENST00000506362.1:c.680C>T
ENST00000507765.1:n.1232C>T
NM_001145853.1:c.1047C>T	NP_001139325.1:p.Ile349=
NM_006005.3:c.1047C>T MANE Select	NP_005996.2:p.Ile349=
XM_017008586.1:c.1056C>T	XP_016864075.1:p.Ile352=