Canonical Allele Identifier: CA384639414
Gene: WNT1 HGNC NCBI

Linked Data

dbSNP Id: rs1389689190
gnomAD v2: 12-49375416-G-T
gnomAD v4: 12-48981633-G-T
MyVariant Identifiers: chr12:g.49375416G>T (hg19) chr12:g.48981633G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981633G>T , CM000674.2:g.48981633G>T GRCh38
NC_000012.11:g.49375416G>T , CM000674.1:g.49375416G>T GRCh37
NC_000012.10:g.47661683G>T NCBI36
NG_033141.1:g.8181G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.1106G>T MANE Select ENSP00000293549.3:p.Cys369Phe
ENST00000293549.3:c.1106G>T ENSP00000293549.3:p.Cys369Phe
ENST00000613114.4:c.1073G>T ENSP00000481240.1:p.Cys358Phe
NM_005430.3:c.1106G>T NP_005421.1:p.Cys369Phe
NM_005430.4:c.1106G>T MANE Select NP_005421.1:p.Cys369Phe
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