Canonical Allele Identifier: CA355265307

Gene: PIK3CA

Linked Data

• ClinVar Variation Id: 1777510
• ClinVar RCV Id: RCV002403847
• dbSNP Id: rs2108408479
• gnomAD v4: 3-179218332-C-A
• MyVariant Identifiers: chr3:g.178936120C>A (hg19) ; chr3:g.179218332C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179218332C>A , CM000665.2:g.179218332C>A	GRCh38
NC_000003.11:g.178936120C>A , CM000665.1:g.178936120C>A	GRCh37
NC_000003.10:g.180418814C>A	NCBI36
NG_012113.2:g.74810C>A , LRG_310:g.74810C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263967.4:c.1662C>A MANE Select	ENSP00000263967.3:p.His554Gln
ENST00000462255.2:n.124C>A
ENST00000643187.1:c.1662C>A	ENSP00000493507.1:p.His554Gln
ENST00000674534.1:n.1416C>A
ENST00000674622.1:c.165C>A	ENSP00000502417.1:p.His55Gln
ENST00000675467.1:n.4469C>A
ENST00000675786.1:c.*229C>A	ENSP00000502323.1:n.*229C>A
ENST00000263967.3:c.1662C>A	ENSP00000263967.3:p.His554Gln
NM_006218.2:c.1662C>A , LRG_310t1:c.1662C>A	NP_006209.2:p.His554Gln
XM_006713658.2:c.1662C>A	XP_006713721.1:p.His554Gln
XM_011512894.1:c.1662C>A	XP_011511196.1:p.His554Gln
NM_006218.3:c.1662C>A	NP_006209.2:p.His554Gln
XM_006713658.4:c.1662C>A	XP_006713721.1:p.His554Gln
XM_011512894.2:c.1662C>A	XP_011511196.1:p.His554Gln
NM_006218.4:c.1662C>A MANE Select	NP_006209.2:p.His554Gln