Canonical Allele Identifier: CA2710510
Gene: PIK3CA HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.179199036G>A
GRCh37 chr3:g.178916824G>A
Revel Score:
ENST00000263967 (MANE Select) 0.284
ENST00000468036 0.284
gnomAD v2:
3:178916824 G / A
gnomAD v3:
3:179199036 G / A
gnomAD v4:
chr3-179199036-G-A
Joint Max Group AF 0.00001747 (AFR)
Genomes Max Group AF 0.00001973 (NFE)
Exomes Max Group AF 0.00002376 (AFR)
ClinVar RCV:
RCV000529008
RCV002528307
ClinVar Variation:
456536
dbSNP:
201269904
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179199036G>A , CM000665.2:g.179199036G>A GRCh38
NC_000003.11:g.178916824G>A , CM000665.1:g.178916824G>A GRCh37
NC_000003.10:g.180399518G>A NCBI36
NG_012113.2:g.55514G>A , LRG_310:g.55514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263967.4:c.211G>A MANE Select ENSP00000263967.3:p.Val71Ile
ENST00000643187.1:c.211G>A ENSP00000493507.1:p.Val71Ile
ENST00000675467.1:n.3018G>A
ENST00000675786.1:c.211G>A ENSP00000502323.1:p.Val71Ile
ENST00000263967.3:c.211G>A ENSP00000263967.3:p.Val71Ile
ENST00000468036.1:c.211G>A ENSP00000417479.1:p.Val71Ile
NM_006218.2:c.211G>A , LRG_310t1:c.211G>A NP_006209.2:p.Val71Ile
XM_006713658.2:c.211G>A XP_006713721.1:p.Val71Ile
XM_011512894.1:c.211G>A XP_011511196.1:p.Val71Ile
NM_006218.3:c.211G>A NP_006209.2:p.Val71Ile
XM_006713658.4:c.211G>A XP_006713721.1:p.Val71Ile
XM_011512894.2:c.211G>A XP_011511196.1:p.Val71Ile
NM_006218.4:c.211G>A MANE Select NP_006209.2:p.Val71Ile
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