Canonical Allele Identifier: CA2839719

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1450939
• ClinVar RCV Id: RCV001993013 ; RCV002492110
• dbSNP Id: rs377712049
• ExAC: 4:6303914 G / A
• gnomAD v2: 4-6303914-G-A
• gnomAD v3: 4-6302187-G-A
• gnomAD v4: 4-6302187-G-A
• MyVariant Identifiers: chr4:g.6303914G>A (hg19) ; chr4:g.6302187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302187G>A , CM000666.2:g.6302187G>A	GRCh38
NC_000004.11:g.6303914G>A , CM000666.1:g.6303914G>A	GRCh37
NC_000004.10:g.6354815G>A	NCBI36
NG_011700.1:g.37338G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2428G>A	ENSP00000507852.1:p.Val810Ile
ENST00000683395.1:c.2369G>A
ENST00000684087.1:c.2392G>A	ENSP00000506978.1:p.Val798Ile
ENST00000506362.2:c.2143G>A	ENSP00000424103.2:p.Val715Ile
ENST00000673991.1:c.2428G>A	ENSP00000501033.1:p.Val810Ile
ENST00000226760.5:c.2392G>A MANE Select	ENSP00000226760.1:p.Val798Ile
ENST00000503569.5:c.2392G>A	ENSP00000423337.1:p.Val798Ile
ENST00000507765.1:n.2577G>A
NM_001145853.1:c.2392G>A	NP_001139325.1:p.Val798Ile
NM_006005.3:c.2392G>A MANE Select	NP_005996.2:p.Val798Ile
XM_017008586.1:c.2401G>A	XP_016864075.1:p.Val801Ile