Canonical Allele Identifier: CA2839395

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1370544
• ClinVar RCV Id: RCV001864314
• dbSNP Id: rs544933961
• ExAC: 4:6303060 A / G
• gnomAD v2: 4-6303060-A-G
• gnomAD v3: 4-6301333-A-G
• gnomAD v4: 4-6301333-A-G
• MyVariant Identifiers: chr4:g.6303060A>G (hg19) ; chr4:g.6301333A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301333A>G , CM000666.2:g.6301333A>G	GRCh38
NC_000004.11:g.6303060A>G , CM000666.1:g.6303060A>G	GRCh37
NC_000004.10:g.6353961A>G	NCBI36
NG_011700.1:g.36484A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1574A>G	ENSP00000507852.1:p.Tyr525Cys
ENST00000683395.1:c.1515A>G
ENST00000684087.1:c.1538A>G	ENSP00000506978.1:p.Tyr513Cys
ENST00000506362.2:c.1289A>G	ENSP00000424103.2:p.Tyr430Cys
ENST00000673642.1:c.1197A>G	ENSP00000501242.1:p.Leu399=
ENST00000673991.1:c.1574A>G	ENSP00000501033.1:p.Tyr525Cys
ENST00000226760.5:c.1538A>G MANE Select	ENSP00000226760.1:p.Tyr513Cys
ENST00000503569.5:c.1538A>G	ENSP00000423337.1:p.Tyr513Cys
ENST00000507765.1:n.1723A>G
NM_001145853.1:c.1538A>G	NP_001139325.1:p.Tyr513Cys
NM_006005.3:c.1538A>G MANE Select	NP_005996.2:p.Tyr513Cys
XM_017008586.1:c.1547A>G	XP_016864075.1:p.Tyr516Cys