Canonical Allele Identifier: CA356178491

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2203531
• ClinVar RCV Id: RCV002651817
• MyVariant Identifiers: chr4:g.6303912A>T (hg19) ; chr4:g.6302185A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302185A>T , CM000666.2:g.6302185A>T	GRCh38
NC_000004.11:g.6303912A>T , CM000666.1:g.6303912A>T	GRCh37
NC_000004.10:g.6354813A>T	NCBI36
NG_011700.1:g.37336A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2426A>T	ENSP00000507852.1:p.Asp809Val
ENST00000683395.1:c.2367A>T
ENST00000684087.1:c.2390A>T	ENSP00000506978.1:p.Asp797Val
ENST00000506362.2:c.2141A>T	ENSP00000424103.2:p.Asp714Val
ENST00000673991.1:c.2426A>T	ENSP00000501033.1:p.Asp809Val
ENST00000226760.5:c.2390A>T MANE Select	ENSP00000226760.1:p.Asp797Val
ENST00000503569.5:c.2390A>T	ENSP00000423337.1:p.Asp797Val
ENST00000507765.1:n.2575A>T
NM_001145853.1:c.2390A>T	NP_001139325.1:p.Asp797Val
NM_006005.3:c.2390A>T MANE Select	NP_005996.2:p.Asp797Val
XM_017008586.1:c.2399A>T	XP_016864075.1:p.Asp800Val