Canonical Allele Identifier: CA88537414
Gene: PIK3CA HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.179234154A>C
GRCh37 chr3:g.178951942A>C
gnomAD v3:
3:179234154 A / C
gnomAD v4:
chr3-179234154-A-C
Joint Max Group AF 0.00000543 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar Allele:
2121065
ClinVar RCV:
RCV002939163
RCV003308360
ClinVar Variation:
2061917
dbSNP:
199988513
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179234154A>C , CM000665.2:g.179234154A>C GRCh38
NC_000003.11:g.178951942A>C , CM000665.1:g.178951942A>C GRCh37
NC_000003.10:g.180434636A>C NCBI36
NG_012113.2:g.90632A>C , LRG_310:g.90632A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263967.4:c.2997A>C MANE Select ENSP00000263967.3:p.Ile999=
ENST00000462255.2:n.2020A>C
ENST00000643187.1:c.*77A>C ENSP00000493507.1:n.*77A>C
ENST00000674534.1:n.3905A>C
ENST00000674622.1:c.1418A>C ENSP00000502417.1:n.1418A>C
ENST00000675467.1:n.5804A>C
ENST00000675786.1:c.*1564A>C ENSP00000502323.1:n.*1564A>C
ENST00000675796.1:n.2892A>C
ENST00000263967.3:c.2997A>C ENSP00000263967.3:p.Ile999=
NM_006218.2:c.2997A>C , LRG_310t1:c.2997A>C NP_006209.2:p.Ile999=
XM_006713658.2:c.2997A>C XP_006713721.1:p.Ile999=
XM_011512894.1:c.2997A>C XP_011511196.1:p.Ile999=
NM_006218.3:c.2997A>C NP_006209.2:p.Ile999=
XM_006713658.4:c.2997A>C XP_006713721.1:p.Ile999=
XM_011512894.2:c.2997A>C XP_011511196.1:p.Ile999=
NM_006218.4:c.2997A>C MANE Select NP_006209.2:p.Ile999=
Search 100 bp 5'
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