Canonical Allele Identifier: CA384639305
Gene: WNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2171380
ClinVar RCV Id: RCV003086885
dbSNP Id: rs1428756613
gnomAD v2: 12-49375403-G-A
gnomAD v4: 12-48981620-G-A
MyVariant Identifiers: chr12:g.49375403G>A (hg19) chr12:g.48981620G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981620G>A , CM000674.2:g.48981620G>A GRCh38
NC_000012.11:g.49375403G>A , CM000674.1:g.49375403G>A GRCh37
NC_000012.10:g.47661670G>A NCBI36
NG_033141.1:g.8168G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.1093G>A MANE Select ENSP00000293549.3:p.Val365Ile
ENST00000293549.3:c.1093G>A ENSP00000293549.3:p.Val365Ile
ENST00000613114.4:c.1060G>A ENSP00000481240.1:p.Val354Ile
NM_005430.3:c.1093G>A NP_005421.1:p.Val365Ile
NM_005430.4:c.1093G>A MANE Select NP_005421.1:p.Val365Ile
Search 100 bp 5'
Search 100 bp 3'