Canonical Allele Identifier: CA479704408
Gene: WNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2189213
ClinVar RCV Id: RCV002607189
dbSNP Id: rs932036970
gnomAD v2: 12-49375300-C-T
gnomAD v3: 12-48981517-C-T
gnomAD v4: 12-48981517-C-T
MyVariant Identifiers: chr12:g.49375300C>T (hg19) chr12:g.48981517C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981517C>T , CM000674.2:g.48981517C>T GRCh38
NC_000012.11:g.49375300C>T , CM000674.1:g.49375300C>T GRCh37
NC_000012.10:g.47661567C>T NCBI36
NG_033141.1:g.8065C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.990C>T MANE Select ENSP00000293549.3:p.Cys330=
ENST00000293549.3:c.990C>T ENSP00000293549.3:p.Cys330=
ENST00000613114.4:c.957C>T ENSP00000481240.1:p.Cys319=
NM_005430.3:c.990C>T NP_005421.1:p.Cys330=
NM_005430.4:c.990C>T MANE Select NP_005421.1:p.Cys330=
Search 100 bp 5'
Search 100 bp 3'