Canonical Allele Identifier: CA2710724
Gene: PIK3CA HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.179210475G>C
GRCh37 chr3:g.178928263G>C
gnomAD v2:
3:178928263 G / C
gnomAD v3:
3:179210475 G / C
gnomAD v4:
chr3-179210475-G-C
Joint Max Group AF 0.00009608 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00010019 (NFE)
ClinVar RCV:
RCV000469978
RCV002393176
ClinVar Variation:
412645
dbSNP:
202186428
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179210475G>C , CM000665.2:g.179210475G>C GRCh38
NC_000003.11:g.178928263G>C , CM000665.1:g.178928263G>C GRCh37
NC_000003.10:g.180410957G>C NCBI36
NG_012113.2:g.66953G>C , LRG_310:g.66953G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263967.4:c.1449G>C MANE Select ENSP00000263967.3:p.Val483=
ENST00000643187.1:c.1449G>C ENSP00000493507.1:p.Val483=
ENST00000674534.1:n.1203G>C
ENST00000675467.1:n.4256G>C
ENST00000675786.1:c.*16G>C ENSP00000502323.1:n.*16G>C
ENST00000263967.3:c.1449G>C ENSP00000263967.3:p.Val483=
NM_006218.2:c.1449G>C , LRG_310t1:c.1449G>C NP_006209.2:p.Val483=
XM_006713658.2:c.1449G>C XP_006713721.1:p.Val483=
XM_011512894.1:c.1449G>C XP_011511196.1:p.Val483=
NM_006218.3:c.1449G>C NP_006209.2:p.Val483=
XM_006713658.4:c.1449G>C XP_006713721.1:p.Val483=
XM_011512894.2:c.1449G>C XP_011511196.1:p.Val483=
NM_006218.4:c.1449G>C MANE Select NP_006209.2:p.Val483=
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