Canonical Allele Identifier: CA2710843
Gene: PIK3CA HGNC NCBI

Linked Data

ClinVar Variation Id: 412646
ClinVar RCV Id: RCV000458168 RCV001672777 RCV001836826
dbSNP Id: rs200768351
ExAC: 3:178937849 A / G
gnomAD v2: 3-178937849-A-G
gnomAD v3: 3-179220061-A-G
gnomAD v4: 3-179220061-A-G
MyVariant Identifiers: chr3:g.178937849A>G (hg19) chr3:g.179220061A>G (hg38)
ERepo: CA2710843/MONDO:0016054/018 CA2710843/MONDO:0100283/018
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179220061A>G , CM000665.2:g.179220061A>G GRCh38
NC_000003.11:g.178937849A>G , CM000665.1:g.178937849A>G GRCh37
NC_000003.10:g.180420543A>G NCBI36
NG_012113.2:g.76539A>G , LRG_310:g.76539A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263967.4:c.2015+9A>G MANE Select ENSP00000263967.3:n.2015+9A>G
ENST00000462255.2:n.477+9A>G
ENST00000643187.1:c.2015+9A>G ENSP00000493507.1:n.2015+9A>G
ENST00000674534.1:n.2923+9A>G
ENST00000674622.1:c.436+9A>G ENSP00000502417.1:n.436+9A>G
ENST00000675467.1:n.4822+9A>G
ENST00000675786.1:c.*582+9A>G ENSP00000502323.1:n.*582+9A>G
ENST00000263967.3:c.2015+9A>G ENSP00000263967.3:n.2015+9A>G
ENST00000462255.1:n.289+9A>G
NM_006218.2:c.2015+9A>G , LRG_310t1:c.2015+9A>G NP_006209.2:n.2015+9A>G
XM_006713658.2:c.2015+9A>G XP_006713721.1:n.2015+9A>G
XM_011512894.1:c.2015+9A>G XP_011511196.1:n.2015+9A>G
NM_006218.3:c.2015+9A>G NP_006209.2:n.2015+9A>G
XM_006713658.4:c.2015+9A>G XP_006713721.1:n.2015+9A>G
XM_011512894.2:c.2015+9A>G XP_011511196.1:n.2015+9A>G
NM_006218.4:c.2015+9A>G MANE Select NP_006209.2:n.2015+9A>G
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