Canonical Allele Identifier: CA384638738
Gene: WNT1 HGNC NCBI

Linked Data

dbSNP Id: rs754298019
gnomAD v4: 12-48981569-A-G
MyVariant Identifiers: chr12:g.49375352A>G (hg19) chr12:g.48981569A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981569A>G , CM000674.2:g.48981569A>G GRCh38
NC_000012.11:g.49375352A>G , CM000674.1:g.49375352A>G GRCh37
NC_000012.10:g.47661619A>G NCBI36
NG_033141.1:g.8117A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.1042A>G MANE Select ENSP00000293549.3:p.Thr348Ala
ENST00000293549.3:c.1042A>G ENSP00000293549.3:p.Thr348Ala
ENST00000613114.4:c.1009A>G ENSP00000481240.1:p.Thr337Ala
NM_005430.3:c.1042A>G NP_005421.1:p.Thr348Ala
NM_005430.4:c.1042A>G MANE Select NP_005421.1:p.Thr348Ala
Search 100 bp 5'
Search 100 bp 3'