Canonical Allele Identifier: CA2839492

Gene: WFS1

Linked Data

• ClinVar Variation Id: 425326
• ClinVar RCV Id: RCV000488126 ; RCV002496882 ; RCV003126753 ; RCV003962352
• dbSNP Id: rs141883293
• ExAC: 4:6303313 C / T
• gnomAD v2: 4-6303313-C-T
• gnomAD v3: 4-6301586-C-T
• gnomAD v4: 4-6301586-C-T
• MyVariant Identifiers: chr4:g.6303313C>T (hg19) ; chr4:g.6301586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301586C>T , CM000666.2:g.6301586C>T	GRCh38
NC_000004.11:g.6303313C>T , CM000666.1:g.6303313C>T	GRCh37
NC_000004.10:g.6354214C>T	NCBI36
NG_011700.1:g.36737C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1827C>T	ENSP00000507852.1:p.Ile609=
ENST00000683395.1:c.1768C>T
ENST00000684087.1:c.1791C>T	ENSP00000506978.1:p.Ile597=
ENST00000506362.2:c.1542C>T	ENSP00000424103.2:p.Ile514=
ENST00000673642.1:c.1450C>T	ENSP00000501242.1:n.1450C>T
ENST00000673991.1:c.1827C>T	ENSP00000501033.1:p.Ile609=
ENST00000226760.5:c.1791C>T MANE Select	ENSP00000226760.1:p.Ile597=
ENST00000503569.5:c.1791C>T	ENSP00000423337.1:p.Ile597=
ENST00000507765.1:n.1976C>T
NM_001145853.1:c.1791C>T	NP_001139325.1:p.Ile597=
NM_006005.3:c.1791C>T MANE Select	NP_005996.2:p.Ile597=
XM_017008586.1:c.1800C>T	XP_016864075.1:p.Ile600=