Canonical Allele Identifier: CA9874807
Gene: PI3 HGNC NCBI
COSMIC:
COSM4001913 (not active)
MyVariant.info:
GRCh38 chr20:g.45175881A>C
GRCh37 chr20:g.43804522A>C
Revel Score:
ENST00000243924 (MANE Select) 0.030
gnomAD v2:
20:43804522 A / C
gnomAD v3:
20:45175881 A / C
gnomAD v4:
chr20-45175881-A-C
Joint Max Group AF 0.19396486 (MID)
Genomes Max Group AF 0.17974392 (NFE)
Exomes Max Group AF 0.19183473 (MID)
dbSNP:
2664581
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45175881A>C , CM000682.2:g.45175881A>C GRCh38
NC_000020.10:g.43804522A>C , CM000682.1:g.43804522A>C GRCh37
NC_000020.9:g.43237936A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243924.4:c.100A>C MANE Select ENSP00000243924.3:p.Thr34Pro
ENST00000243924.3:c.100A>C ENSP00000243924.3:p.Thr34Pro
NM_002638.3:c.100A>C NP_002629.1:p.Thr34Pro
NM_002638.4:c.100A>C MANE Select NP_002629.1:p.Thr34Pro
Search 100 bp 5'
Search 100 bp 3'