Canonical Allele Identifier: CA2711006

Gene: PIK3CA

Linked Data

• ClinVar Variation Id: 640626
• ClinVar RCV Id: RCV000793688
• dbSNP Id: rs17849078
• ExAC: 3:178947792 A / G
• gnomAD v2: 3-178947792-A-G
• gnomAD v4: 3-179230004-A-G
• COSMIC: COSM1186458 ; COSM1186459
• MyVariant Identifiers: chr3:g.178947792A>G (hg19) ; chr3:g.179230004A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179230004A>G , CM000665.2:g.179230004A>G	GRCh38
NC_000003.11:g.178947792A>G , CM000665.1:g.178947792A>G	GRCh37
NC_000003.10:g.180430486A>G	NCBI36
NG_012113.2:g.86482A>G , LRG_310:g.86482A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263967.4:c.2667A>G MANE Select	ENSP00000263967.3:p.Ile889Met
ENST00000462255.2:n.1690A>G
ENST00000643187.1:c.2667A>G	ENSP00000493507.1:p.Ile889Met
ENST00000674534.1:n.3575A>G
ENST00000674622.1:c.1088A>G	ENSP00000502417.1:n.1088A>G
ENST00000675467.1:n.5474A>G
ENST00000675786.1:c.*1234A>G	ENSP00000502323.1:n.*1234A>G
ENST00000675796.1:n.2562A>G
ENST00000263967.3:c.2667A>G	ENSP00000263967.3:p.Ile889Met
NM_006218.2:c.2667A>G , LRG_310t1:c.2667A>G	NP_006209.2:p.Ile889Met
XM_006713658.2:c.2667A>G	XP_006713721.1:p.Ile889Met
XM_011512894.1:c.2667A>G	XP_011511196.1:p.Ile889Met
NM_006218.3:c.2667A>G	NP_006209.2:p.Ile889Met
XM_006713658.4:c.2667A>G	XP_006713721.1:p.Ile889Met
XM_011512894.2:c.2667A>G	XP_011511196.1:p.Ile889Met
NM_006218.4:c.2667A>G MANE Select	NP_006209.2:p.Ile889Met