Canonical Allele Identifier: CA384638811
Gene: WNT1 HGNC NCBI

Linked Data

dbSNP Id: rs1941015510
gnomAD v4: 12-48981575-C-T
MyVariant Identifiers: chr12:g.49375358C>T (hg19) chr12:g.48981575C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981575C>T , CM000674.2:g.48981575C>T GRCh38
NC_000012.11:g.49375358C>T , CM000674.1:g.49375358C>T GRCh37
NC_000012.10:g.47661625C>T NCBI36
NG_033141.1:g.8123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.1048C>T MANE Select ENSP00000293549.3:p.His350Tyr
ENST00000293549.3:c.1048C>T ENSP00000293549.3:p.His350Tyr
ENST00000613114.4:c.1015C>T ENSP00000481240.1:p.His339Tyr
NM_005430.3:c.1048C>T NP_005421.1:p.His350Tyr
NM_005430.4:c.1048C>T MANE Select NP_005421.1:p.His350Tyr
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