Canonical Allele Identifier: CA116867

Gene: WNT10A

Linked Data

• ClinVar Variation Id: 4462
• ClinVar RCV Id: RCV000004717 ; RCV000255788 ; RCV000550721 ; RCV000445356 ; RCV000622932 ; RCV000754840 ; RCV000845113 ; RCV001535660 ; RCV001729336 ; RCV001813948 ; RCV002227016 ; RCV004528071
• dbSNP Id: rs121908120
• ExAC: 2:219755011 T / A
• gnomAD v2: 2-219755011-T-A
• gnomAD v3: 2-218890289-T-A
• gnomAD v4: 2-218890289-T-A
• MyVariant Identifiers: chr2:g.219755011T>A (hg19) ; chr2:g.218890289T>A (hg38)
• PubMed: PMID:17847007 ; PMID:19559398 ; PMID:21484994 ; PMID:22581971 ; PMID:23401279 ; PMID:24043634 ; PMID:24449199 ; PMID:24700731 ; PMID:25333069 ; PMID:25356970 ; PMID:28105635

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218890289T>A , CM000664.2:g.218890289T>A	GRCh38
NC_000002.11:g.219755011T>A , CM000664.1:g.219755011T>A	GRCh37
NC_000002.10:g.219463255T>A	NCBI36
NG_012179.1:g.14757T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258411.8:c.682T>A MANE Select	ENSP00000258411.3:p.Phe228Ile
ENST00000258411.7:c.682T>A	ENSP00000258411.3:p.Phe228Ile
ENST00000458582.1:c.264-2485T>A
NM_025216.2:c.682T>A	NP_079492.2:p.Phe228Ile
XM_011511928.1:c.631T>A	XP_011510230.1:p.Phe211Ile
XM_011511929.1:c.586T>A	XP_011510231.1:p.Phe196Ile
XM_011511930.1:c.377-2485T>A	XP_011510232.1:n.377-2485T>A
XM_011511929.2:c.586T>A	XP_011510231.1:p.Phe196Ile
NM_025216.3:c.682T>A MANE Select	NP_079492.2:p.Phe228Ile