Canonical Allele Identifier: CA2839723

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1356983
• ClinVar RCV Id: RCV001880566
• dbSNP Id: rs746922325
• ExAC: 4:6303926 A / G
• gnomAD v2: 4-6303926-A-G
• gnomAD v4: 4-6302199-A-G
• COSMIC: COSM1665023
• MyVariant Identifiers: chr4:g.6303926A>G (hg19) ; chr4:g.6302199A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302199A>G , CM000666.2:g.6302199A>G	GRCh38
NC_000004.11:g.6303926A>G , CM000666.1:g.6303926A>G	GRCh37
NC_000004.10:g.6354827A>G	NCBI36
NG_011700.1:g.37350A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2440A>G	ENSP00000507852.1:p.Ile814Val
ENST00000683395.1:c.2381A>G
ENST00000684087.1:c.2404A>G	ENSP00000506978.1:p.Ile802Val
ENST00000506362.2:c.2155A>G	ENSP00000424103.2:p.Ile719Val
ENST00000673991.1:c.2440A>G	ENSP00000501033.1:p.Ile814Val
ENST00000226760.5:c.2404A>G MANE Select	ENSP00000226760.1:p.Ile802Val
ENST00000503569.5:c.2404A>G	ENSP00000423337.1:p.Ile802Val
ENST00000507765.1:n.2589A>G
NM_001145853.1:c.2404A>G	NP_001139325.1:p.Ile802Val
NM_006005.3:c.2404A>G MANE Select	NP_005996.2:p.Ile802Val
XM_017008586.1:c.2413A>G	XP_016864075.1:p.Ile805Val