Canonical Allele Identifier: CA2839440

Gene: WFS1

Linked Data

• ClinVar Variation Id: 427051
• ClinVar RCV Id: RCV000489883 ; RCV004527597 ; RCV002489199 ; RCV004017644
• dbSNP Id: rs774265764
• ExAC: 4:6303195 G / A
• gnomAD v2: 4-6303195-G-A
• gnomAD v3: 4-6301468-G-A
• gnomAD v4: 4-6301468-G-A
• MyVariant Identifiers: chr4:g.6303195G>A (hg19) ; chr4:g.6301468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301468G>A , CM000666.2:g.6301468G>A	GRCh38
NC_000004.11:g.6303195G>A , CM000666.1:g.6303195G>A	GRCh37
NC_000004.10:g.6354096G>A	NCBI36
NG_011700.1:g.36619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1709G>A	ENSP00000507852.1:p.Arg570His
ENST00000683395.1:c.1650G>A
ENST00000684087.1:c.1673G>A	ENSP00000506978.1:p.Arg558His
ENST00000506362.2:c.1424G>A	ENSP00000424103.2:p.Arg475His
ENST00000673642.1:c.1332G>A	ENSP00000501242.1:n.1332G>A
ENST00000673991.1:c.1709G>A	ENSP00000501033.1:p.Arg570His
ENST00000226760.5:c.1673G>A MANE Select	ENSP00000226760.1:p.Arg558His
ENST00000503569.5:c.1673G>A	ENSP00000423337.1:p.Arg558His
ENST00000507765.1:n.1858G>A
NM_001145853.1:c.1673G>A	NP_001139325.1:p.Arg558His
NM_006005.3:c.1673G>A MANE Select	NP_005996.2:p.Arg558His
XM_017008586.1:c.1682G>A	XP_016864075.1:p.Arg561His