Canonical Allele Identifier: CA143728

Gene: WNT1

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

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