Canonical Allele Identifier: CA324907

Gene: WFS1

Linked Data

• ClinVar Variation Id: 215382
• ClinVar RCV Id: RCV000200344 ; RCV000765776 ; RCV000767004
• dbSNP Id: rs142428158
• ExAC: 4:6296872 G / A
• gnomAD v2: 4-6296872-G-A
• gnomAD v3: 4-6295145-G-A
• gnomAD v4: 4-6295145-G-A
• MyVariant Identifiers: chr4:g.6296872G>A (hg19) ; chr4:g.6295145G>A (hg38)
• PubMed: PMID:26435059

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6295145G>A , CM000666.2:g.6295145G>A	GRCh38
NC_000004.11:g.6296872G>A , CM000666.1:g.6296872G>A	GRCh37
NC_000004.10:g.6347773G>A	NCBI36
NG_011700.1:g.30296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.853G>A	ENSP00000507852.1:p.Glu285Lys
ENST00000683395.1:c.794G>A
ENST00000684087.1:c.817G>A	ENSP00000506978.1:p.Glu273Lys
ENST00000506362.2:c.568G>A	ENSP00000424103.2:p.Glu190Lys
ENST00000673642.1:c.616G>A	ENSP00000501242.1:p.Glu206Lys
ENST00000673991.1:c.853G>A	ENSP00000501033.1:p.Glu285Lys
ENST00000226760.5:c.817G>A MANE Select	ENSP00000226760.1:p.Glu273Lys
ENST00000503569.5:c.817G>A	ENSP00000423337.1:p.Glu273Lys
ENST00000506362.1:c.450G>A
ENST00000507765.1:n.1002G>A
ENST00000513395.1:n.375G>A
NM_001145853.1:c.817G>A	NP_001139325.1:p.Glu273Lys
NM_006005.3:c.817G>A MANE Select	NP_005996.2:p.Glu273Lys
XM_017008586.1:c.826G>A	XP_016864075.1:p.Glu276Lys