Canonical Allele Identifier: CA9874836
Gene: PI3 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.45176005C>T
GRCh37 chr20:g.43804646C>T
Revel Score:
ENST00000243924 (MANE Select) 0.060
gnomAD v2:
20:43804646 C / T
gnomAD v3:
20:45176005 C / T
gnomAD v4:
chr20-45176005-C-T
Joint Max Group AF 0.00001883 (NFE)
Exomes Max Group AF 0.00001914 (NFE)
ClinVar RCV:
RCV004165643
ClinVar Variation:
2326251
dbSNP:
148103941
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45176005C>T , CM000682.2:g.45176005C>T GRCh38
NC_000020.10:g.43804646C>T , CM000682.1:g.43804646C>T GRCh37
NC_000020.9:g.43238060C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243924.4:c.224C>T MANE Select ENSP00000243924.3:p.Ser75Phe
ENST00000243924.3:c.224C>T ENSP00000243924.3:p.Ser75Phe
NM_002638.3:c.224C>T NP_002629.1:p.Ser75Phe
NM_002638.4:c.224C>T MANE Select NP_002629.1:p.Ser75Phe
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