Canonical Allele Identifier: CA2839204

Gene: WFS1

Linked Data

• ClinVar Variation Id: 229635
• ClinVar RCV Id: RCV000214867 ; RCV001174389 ; RCV001853497 ; RCV002494578
• dbSNP Id: rs181988441
• ExAC: 4:6302574 A / G
• gnomAD v2: 4-6302574-A-G
• gnomAD v3: 4-6300847-A-G
• gnomAD v4: 4-6300847-A-G
• MyVariant Identifiers: chr4:g.6302574A>G (hg19) ; chr4:g.6300847A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300847A>G , CM000666.2:g.6300847A>G	GRCh38
NC_000004.11:g.6302574A>G , CM000666.1:g.6302574A>G	GRCh37
NC_000004.10:g.6353475A>G	NCBI36
NG_011700.1:g.35998A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1088A>G	ENSP00000507852.1:p.Tyr363Cys
ENST00000683395.1:c.1029A>G
ENST00000684087.1:c.1052A>G	ENSP00000506978.1:p.Tyr351Cys
ENST00000506362.2:c.803A>G	ENSP00000424103.2:p.Tyr268Cys
ENST00000673642.1:c.711A>G	ENSP00000501242.1:p.Leu237=
ENST00000673991.1:c.1088A>G	ENSP00000501033.1:p.Tyr363Cys
ENST00000226760.5:c.1052A>G MANE Select	ENSP00000226760.1:p.Tyr351Cys
ENST00000503569.5:c.1052A>G	ENSP00000423337.1:p.Tyr351Cys
ENST00000506362.1:c.685A>G
ENST00000507765.1:n.1237A>G
NM_001145853.1:c.1052A>G	NP_001139325.1:p.Tyr351Cys
NM_006005.3:c.1052A>G MANE Select	NP_005996.2:p.Tyr351Cys
XM_017008586.1:c.1061A>G	XP_016864075.1:p.Tyr354Cys