Canonical Allele Identifier: CA689545050
Gene: WNT1 HGNC NCBI

Linked Data

dbSNP Id: rs1197810384
gnomAD v3: 12-48981770-T-C
gnomAD v4: 12-48981770-T-C
MyVariant Identifiers: chr12:g.49375553T>C (hg19) chr12:g.48981770T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981770T>C , CM000674.2:g.48981770T>C GRCh38
NC_000012.11:g.49375553T>C , CM000674.1:g.49375553T>C GRCh37
NC_000012.10:g.47661820T>C NCBI36
NG_033141.1:g.8318T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.*130T>C MANE Select ENSP00000293549.3:n.*130T>C
NM_005430.3:c.*130T>C NP_005421.1:n.*130T>C
NM_005430.4:c.*130T>C MANE Select NP_005421.1:n.*130T>C
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