Canonical Allele Identifier: CA147273
Gene: EP300 HGNC NCBI
COSMIC:
COSN15656402 (not active)
MyVariant.info:
GRCh38 chr22:g.41170591C>T
GRCh37 chr22:g.41566595C>T
gnomAD v2:
22:41566595 C / T
gnomAD v3:
22:41170591 C / T
gnomAD v4:
chr22-41170591-C-T
Joint Max Group AF 0.53580929 (AMR)
Genomes Max Group AF 0.41739102 (AMR)
Exomes Max Group AF 0.57369023 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41170591C>T , CM000684.2:g.41170591C>T GRCh38
NC_000022.10:g.41566595C>T , CM000684.1:g.41566595C>T GRCh37
NC_000022.9:g.39896541C>T NCBI36
NG_009817.1:g.82982C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703544.1:c.*2372+20C>T ENSP00000515365.1:n.*2372+20C>T
ENST00000263253.9:c.4452+20C>T MANE Select ENSP00000263253.7:n.4452+20C>T
ENST00000674155.1:c.4374+20C>T ENSP00000501078.1:n.4374+20C>T
ENST00000263253.8:c.4452+20C>T ENSP00000263253.7:n.4452+20C>T
NM_001429.3:c.4452+20C>T NP_001420.2:n.4452+20C>T
XM_006724165.2:c.4374+20C>T XP_006724228.1:n.4374+20C>T
NM_001362843.1:c.4374+20C>T NP_001349772.1:n.4374+20C>T
NM_001429.4:c.4452+20C>T MANE Select NP_001420.2:n.4452+20C>T
NM_001362843.2:c.4374+20C>T NP_001349772.1:n.4374+20C>T
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