Canonical Allele Identifier: CA231652

Gene: WFS1

Linked Data

• ClinVar Variation Id: 130747
• ClinVar RCV Id: RCV000118863 ; RCV000825497 ; RCV001157249 ; RCV001157250 ; RCV002509227
• dbSNP Id: rs148028521
• ExAC: 4:6302546 G / A
• gnomAD v2: 4-6302546-G-A
• gnomAD v3: 4-6300819-G-A
• gnomAD v4: 4-6300819-G-A
• MyVariant Identifiers: chr4:g.6302546G>A (hg19) ; chr4:g.6300819G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300819G>A , CM000666.2:g.6300819G>A	GRCh38
NC_000004.11:g.6302546G>A , CM000666.1:g.6302546G>A	GRCh37
NC_000004.10:g.6353447G>A	NCBI36
NG_011700.1:g.35970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1060G>A	ENSP00000507852.1:p.Ala354Thr
ENST00000683395.1:c.1001G>A
ENST00000684087.1:c.1024G>A	ENSP00000506978.1:p.Ala342Thr
ENST00000506362.2:c.775G>A	ENSP00000424103.2:p.Ala259Thr
ENST00000673642.1:c.683G>A	ENSP00000501242.1:p.Arg228His
ENST00000673991.1:c.1060G>A	ENSP00000501033.1:p.Ala354Thr
ENST00000226760.5:c.1024G>A MANE Select	ENSP00000226760.1:p.Ala342Thr
ENST00000503569.5:c.1024G>A	ENSP00000423337.1:p.Ala342Thr
ENST00000506362.1:c.657G>A
ENST00000507765.1:n.1209G>A
NM_001145853.1:c.1024G>A	NP_001139325.1:p.Ala342Thr
NM_006005.3:c.1024G>A MANE Select	NP_005996.2:p.Ala342Thr
XM_017008586.1:c.1033G>A	XP_016864075.1:p.Ala345Thr