Canonical Allele Identifier: CA384637324
Gene: WNT1 HGNC NCBI

Linked Data

dbSNP Id: rs1442343941
gnomAD v2: 12-49375245-G-C
gnomAD v4: 12-48981462-G-C
MyVariant Identifiers: chr12:g.49375245G>C (hg19) chr12:g.48981462G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48981462G>C , CM000674.2:g.48981462G>C GRCh38
NC_000012.11:g.49375245G>C , CM000674.1:g.49375245G>C GRCh37
NC_000012.10:g.47661512G>C NCBI36
NG_033141.1:g.8010G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000293549.4:c.935G>C MANE Select ENSP00000293549.3:p.Gly312Ala
ENST00000293549.3:c.935G>C ENSP00000293549.3:p.Gly312Ala
ENST00000613114.4:c.902G>C ENSP00000481240.1:p.Gly301Ala
NM_005430.3:c.935G>C NP_005421.1:p.Gly312Ala
NM_005430.4:c.935G>C MANE Select NP_005421.1:p.Gly312Ala
Search 100 bp 5'
Search 100 bp 3'