Canonical Allele Identifier: CA143720
Gene: WNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 50257
ClinVar RCV Id: RCV000043491 RCV000043492
dbSNP Id: rs387907353
gnomAD v4: 12-48981380-T-TC
MyVariant Identifiers: chr12:g.49375169dupC (hg19) chr12:g.48981386dupC (hg38)
PubMed: PMID:23499309
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981386dup , CM000674.2:g.48981386dup GRCh38
NC_000012.11:g.49375169dup , CM000674.1:g.49375169dup GRCh37
NC_000012.10:g.47661436dup NCBI36
NG_033141.1:g.7934dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.859dup MANE Select ENSP00000293549.3:p.His287ProfsTer30
ENST00000293549.3:c.859dup ENSP00000293549.3:p.His287ProfsTer30
ENST00000613114.4:c.828-2dup ENSP00000481240.1:n.828-2dup
NM_005430.3:c.859dup NP_005421.1:p.His287ProfsTer30
NM_005430.4:c.859dup MANE Select NP_005421.1:p.His287ProfsTer30
Search 100 bp 5'
Search 100 bp 3'