Canonical Allele Identifier: CA236608873
Gene: WNT1 HGNC NCBI

Linked Data

dbSNP Id: rs989555065
gnomAD v3: 12-48981757-C-T
gnomAD v4: 12-48981757-C-T
MyVariant Identifiers: chr12:g.49375540C>T (hg19) chr12:g.48981757C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981757C>T , CM000674.2:g.48981757C>T GRCh38
NC_000012.11:g.49375540C>T , CM000674.1:g.49375540C>T GRCh37
NC_000012.10:g.47661807C>T NCBI36
NG_033141.1:g.8305C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.*117C>T MANE Select ENSP00000293549.3:n.*117C>T
NM_005430.3:c.*117C>T NP_005421.1:n.*117C>T
NM_005430.4:c.*117C>T MANE Select NP_005421.1:n.*117C>T
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