Canonical Allele Identifier: CA236608790
Gene: WNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2965693
ClinVar RCV Id: RCV003825843
dbSNP Id: rs978120654
gnomAD v3: 12-48981385-C-A
gnomAD v4: 12-48981385-C-A
MyVariant Identifiers: chr12:g.49375168C>A (hg19) chr12:g.48981385C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981385C>A , CM000674.2:g.48981385C>A GRCh38
NC_000012.11:g.49375168C>A , CM000674.1:g.49375168C>A GRCh37
NC_000012.10:g.47661435C>A NCBI36
NG_033141.1:g.7933C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.858C>A MANE Select ENSP00000293549.3:p.Pro286=
ENST00000293549.3:c.858C>A ENSP00000293549.3:p.Pro286=
ENST00000613114.4:c.828-3C>A ENSP00000481240.1:n.828-3C>A
NM_005430.3:c.858C>A NP_005421.1:p.Pro286=
NM_005430.4:c.858C>A MANE Select NP_005421.1:p.Pro286=
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Search 100 bp 3'