Canonical Allele Identifier: CA136332

Gene: WFS1

Linked Data

• ClinVar Variation Id: 45434
• ClinVar RCV Id: RCV000038638 ; RCV000269758 ; RCV000363867 ; RCV001523400 ; RCV002464096
• dbSNP Id: rs1801208
• ExAC: 4:6302889 G / A
• gnomAD v2: 4-6302889-G-A
• gnomAD v3: 4-6301162-G-A
• gnomAD v4: 4-6301162-G-A
• MyVariant Identifiers: chr4:g.6302889G>A (hg19) ; chr4:g.6301162G>A (hg38)
• PubMed: PMID:10679252

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301162G>A , CM000666.2:g.6301162G>A	GRCh38
NC_000004.11:g.6302889G>A , CM000666.1:g.6302889G>A	GRCh37
NC_000004.10:g.6353790G>A	NCBI36
NG_011700.1:g.36313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1403G>A	ENSP00000507852.1:p.Arg468His
ENST00000683395.1:c.1344G>A
ENST00000684087.1:c.1367G>A	ENSP00000506978.1:p.Arg456His
ENST00000506362.2:c.1118G>A	ENSP00000424103.2:p.Arg373His
ENST00000673642.1:c.1026G>A	ENSP00000501242.1:p.Ala342=
ENST00000673991.1:c.1403G>A	ENSP00000501033.1:p.Arg468His
ENST00000226760.5:c.1367G>A MANE Select	ENSP00000226760.1:p.Arg456His
ENST00000503569.5:c.1367G>A	ENSP00000423337.1:p.Arg456His
ENST00000507765.1:n.1552G>A
NM_001145853.1:c.1367G>A	NP_001139325.1:p.Arg456His
NM_006005.3:c.1367G>A MANE Select	NP_005996.2:p.Arg456His
XM_017008586.1:c.1376G>A	XP_016864075.1:p.Arg459His