Canonical Allele Identifier: CA248864

Gene: WNT1

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)

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