Canonical Allele Identifier: CA384637154
Gene: WNT1 HGNC NCBI

Linked Data

gnomAD v4: 12-48981438-G-A
MyVariant Identifiers: chr12:g.49375221G>A (hg19) chr12:g.48981438G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981438G>A , CM000674.2:g.48981438G>A GRCh38
NC_000012.11:g.49375221G>A , CM000674.1:g.49375221G>A GRCh37
NC_000012.10:g.47661488G>A NCBI36
NG_033141.1:g.7986G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.911G>A MANE Select ENSP00000293549.3:p.Arg304His
ENST00000293549.3:c.911G>A ENSP00000293549.3:p.Arg304His
ENST00000613114.4:c.878G>A ENSP00000481240.1:p.Arg293His
NM_005430.3:c.911G>A NP_005421.1:p.Arg304His
NM_005430.4:c.911G>A MANE Select NP_005421.1:p.Arg304His
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