Canonical Allele Identifier: CA143728
Gene: WNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 50262
ClinVar RCV Id: RCV000043497 RCV000678662
dbSNP Id: rs387907358
gnomAD v4: 12-48981590-G-T
MyVariant Identifiers: chr12:g.49375373G>T (hg19) chr12:g.48981590G>T (hg38)
PubMed: PMID:23434763
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981590G>T , CM000674.2:g.48981590G>T GRCh38
NC_000012.11:g.49375373G>T , CM000674.1:g.49375373G>T GRCh37
NC_000012.10:g.47661640G>T NCBI36
NG_033141.1:g.8138G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.1063G>T MANE Select ENSP00000293549.3:p.Val355Phe
ENST00000293549.3:c.1063G>T ENSP00000293549.3:p.Val355Phe
ENST00000613114.4:c.1030G>T ENSP00000481240.1:p.Val344Phe
NM_005430.3:c.1063G>T NP_005421.1:p.Val355Phe
NM_005430.4:c.1063G>T MANE Select NP_005421.1:p.Val355Phe
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