Canonical Allele Identifier: CA248864
Gene: WNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 218673
ClinVar RCV Id: RCV000202661 RCV000893654 RCV002277561 RCV002494517
dbSNP Id: rs61758378
ExAC: 12:49373410 T / A
gnomAD v2: 12-49373410-T-A
gnomAD v3: 12-48979627-T-A
gnomAD v4: 12-48979627-T-A
MyVariant Identifiers: chr12:g.49373410T>A (hg19) chr12:g.48979627T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48979627T>A , CM000674.2:g.48979627T>A GRCh38
NC_000012.11:g.49373410T>A , CM000674.1:g.49373410T>A GRCh37
NC_000012.10:g.47659677T>A NCBI36
NG_033141.1:g.6175T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.264T>A MANE Select ENSP00000293549.3:p.Ser88Arg
ENST00000293549.3:c.264T>A ENSP00000293549.3:p.Ser88Arg
ENST00000613114.4:c.264T>A ENSP00000481240.1:p.Ser88Arg
NM_005430.3:c.264T>A NP_005421.1:p.Ser88Arg
NM_005430.4:c.264T>A MANE Select NP_005421.1:p.Ser88Arg
Search 100 bp 5'
Search 100 bp 3'