Canonical Allele Identifier: CA2839214

Gene: WFS1

Linked Data

• dbSNP Id: rs746351317
• ExAC: 4:6302606 C / G
• gnomAD v2: 4-6302606-C-G
• gnomAD v3: 4-6300879-C-G
• gnomAD v4: 4-6300879-C-G
• MyVariant Identifiers: chr4:g.6302606C>G (hg19) ; chr4:g.6300879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300879C>G , CM000666.2:g.6300879C>G	GRCh38
NC_000004.11:g.6302606C>G , CM000666.1:g.6302606C>G	GRCh37
NC_000004.10:g.6353507C>G	NCBI36
NG_011700.1:g.36030C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1120C>G	ENSP00000507852.1:p.Leu374Val
ENST00000683395.1:c.1061C>G
ENST00000684087.1:c.1084C>G	ENSP00000506978.1:p.Leu362Val
ENST00000506362.2:c.835C>G	ENSP00000424103.2:p.Leu279Val
ENST00000673642.1:c.743C>G	ENSP00000501242.1:p.Pro248Arg
ENST00000673991.1:c.1120C>G	ENSP00000501033.1:p.Leu374Val
ENST00000226760.5:c.1084C>G MANE Select	ENSP00000226760.1:p.Leu362Val
ENST00000503569.5:c.1084C>G	ENSP00000423337.1:p.Leu362Val
ENST00000506362.1:c.717C>G
ENST00000507765.1:n.1269C>G
NM_001145853.1:c.1084C>G	NP_001139325.1:p.Leu362Val
NM_006005.3:c.1084C>G MANE Select	NP_005996.2:p.Leu362Val
XM_017008586.1:c.1093C>G	XP_016864075.1:p.Leu365Val