Canonical Allele Identifier: CA384636450
Gene: WNT1 HGNC NCBI

Linked Data

dbSNP Id: rs1592257993
gnomAD v3: 12-48981395-G-A
gnomAD v4: 12-48981395-G-A
MyVariant Identifiers: chr12:g.49375178G>A (hg19) chr12:g.48981395G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981395G>A , CM000674.2:g.48981395G>A GRCh38
NC_000012.11:g.49375178G>A , CM000674.1:g.49375178G>A GRCh37
NC_000012.10:g.47661445G>A NCBI36
NG_033141.1:g.7943G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.868G>A MANE Select ENSP00000293549.3:p.Val290Ile
ENST00000293549.3:c.868G>A ENSP00000293549.3:p.Val290Ile
ENST00000613114.4:c.835G>A ENSP00000481240.1:p.Val279Ile
NM_005430.3:c.868G>A NP_005421.1:p.Val290Ile
NM_005430.4:c.868G>A MANE Select NP_005421.1:p.Val290Ile
Search 100 bp 5'
Search 100 bp 3'