Canonical Allele Identifier: CA10576639

Gene: WFS1

Linked Data

• ClinVar Variation Id: 229639
• ClinVar RCV Id: RCV000218792 ; RCV002485409
• dbSNP Id: rs876658118
• gnomAD v2: 4-6303227-G-A
• gnomAD v3: 4-6301500-G-A
• gnomAD v4: 4-6301500-G-A
• MyVariant Identifiers: chr4:g.6303227G>A (hg19) ; chr4:g.6301500G>A (hg38)
• PubMed: PMID:20301750 ; PMID:24890733

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301500G>A , CM000666.2:g.6301500G>A	GRCh38
NC_000004.11:g.6303227G>A , CM000666.1:g.6303227G>A	GRCh37
NC_000004.10:g.6354128G>A	NCBI36
NG_011700.1:g.36651G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1741G>A	ENSP00000507852.1:p.Ala581Thr
ENST00000683395.1:c.1682G>A
ENST00000684087.1:c.1705G>A	ENSP00000506978.1:p.Ala569Thr
ENST00000506362.2:c.1456G>A	ENSP00000424103.2:p.Ala486Thr
ENST00000673642.1:c.1364G>A	ENSP00000501242.1:n.1364G>A
ENST00000673991.1:c.1741G>A	ENSP00000501033.1:p.Ala581Thr
ENST00000226760.5:c.1705G>A MANE Select	ENSP00000226760.1:p.Ala569Thr
ENST00000503569.5:c.1705G>A	ENSP00000423337.1:p.Ala569Thr
ENST00000507765.1:n.1890G>A
NM_001145853.1:c.1705G>A	NP_001139325.1:p.Ala569Thr
NM_006005.3:c.1705G>A MANE Select	NP_005996.2:p.Ala569Thr
XM_017008586.1:c.1714G>A	XP_016864075.1:p.Ala572Thr