Canonical Allele Identifier: CA384637296
Gene: WNT1 HGNC NCBI

Linked Data

dbSNP Id: rs1367508808
gnomAD v2: 12-49375242-C-T
gnomAD v4: 12-48981459-C-T
MyVariant Identifiers: chr12:g.49375242C>T (hg19) chr12:g.48981459C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981459C>T , CM000674.2:g.48981459C>T GRCh38
NC_000012.11:g.49375242C>T , CM000674.1:g.49375242C>T GRCh37
NC_000012.10:g.47661509C>T NCBI36
NG_033141.1:g.8007C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.932C>T MANE Select ENSP00000293549.3:p.Ala311Val
ENST00000293549.3:c.932C>T ENSP00000293549.3:p.Ala311Val
ENST00000613114.4:c.899C>T ENSP00000481240.1:p.Ala300Val
NM_005430.3:c.932C>T NP_005421.1:p.Ala311Val
NM_005430.4:c.932C>T MANE Select NP_005421.1:p.Ala311Val
Search 100 bp 5'
Search 100 bp 3'