Canonical Allele Identifier: CA2839469

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1594335
• ClinVar RCV Id: RCV002105630 ; RCV003126155
• dbSNP Id: rs749882923
• ExAC: 4:6303262 G / T
• gnomAD v2: 4-6303262-G-T
• gnomAD v3: 4-6301535-G-T
• gnomAD v4: 4-6301535-G-T
• MyVariant Identifiers: chr4:g.6303262G>T (hg19) ; chr4:g.6301535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301535G>T , CM000666.2:g.6301535G>T	GRCh38
NC_000004.11:g.6303262G>T , CM000666.1:g.6303262G>T	GRCh37
NC_000004.10:g.6354163G>T	NCBI36
NG_011700.1:g.36686G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1776G>T	ENSP00000507852.1:p.Val592=
ENST00000683395.1:c.1717G>T
ENST00000684087.1:c.1740G>T	ENSP00000506978.1:p.Val580=
ENST00000506362.2:c.1491G>T	ENSP00000424103.2:p.Val497=
ENST00000673642.1:c.1399G>T	ENSP00000501242.1:n.1399G>T
ENST00000673991.1:c.1776G>T	ENSP00000501033.1:p.Val592=
ENST00000226760.5:c.1740G>T MANE Select	ENSP00000226760.1:p.Val580=
ENST00000503569.5:c.1740G>T	ENSP00000423337.1:p.Val580=
ENST00000507765.1:n.1925G>T
NM_001145853.1:c.1740G>T	NP_001139325.1:p.Val580=
NM_006005.3:c.1740G>T MANE Select	NP_005996.2:p.Val580=
XM_017008586.1:c.1749G>T	XP_016864075.1:p.Val583=