Canonical Allele Identifier: CA236608871
Gene: WNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1193037
ClinVar RCV Id: RCV001555294
dbSNP Id: rs114287565
gnomAD v2: 12-49375539-G-A
gnomAD v3: 12-48981756-G-A
gnomAD v4: 12-48981756-G-A
MyVariant Identifiers: chr12:g.49375539G>A (hg19) chr12:g.48981756G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981756G>A , CM000674.2:g.48981756G>A GRCh38
NC_000012.11:g.49375539G>A , CM000674.1:g.49375539G>A GRCh37
NC_000012.10:g.47661806G>A NCBI36
NG_033141.1:g.8304G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.*116G>A MANE Select ENSP00000293549.3:n.*116G>A
NM_005430.3:c.*116G>A NP_005421.1:n.*116G>A
NM_005430.4:c.*116G>A MANE Select NP_005421.1:n.*116G>A
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