Canonical Allele Identifier: CA384638754
Gene: WNT1 HGNC NCBI

Linked Data

gnomAD v4: 12-48981570-C-A
MyVariant Identifiers: chr12:g.49375353C>A (hg19) chr12:g.48981570C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981570C>A , CM000674.2:g.48981570C>A GRCh38
NC_000012.11:g.49375353C>A , CM000674.1:g.49375353C>A GRCh37
NC_000012.10:g.47661620C>A NCBI36
NG_033141.1:g.8118C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.1043C>A MANE Select ENSP00000293549.3:p.Thr348Asn
ENST00000293549.3:c.1043C>A ENSP00000293549.3:p.Thr348Asn
ENST00000613114.4:c.1010C>A ENSP00000481240.1:p.Thr337Asn
NM_005430.3:c.1043C>A NP_005421.1:p.Thr348Asn
NM_005430.4:c.1043C>A MANE Select NP_005421.1:p.Thr348Asn
Search 100 bp 5'
Search 100 bp 3'