Canonical Allele Identifier: CA172146
Gene: EP300 HGNC NCBI
COSMIC:
COSM4002191 (not active)
MyVariant.info:
GRCh38 chr22:g.41157255G>A
GRCh37 chr22:g.41553259G>A
gnomAD v2:
22:41553259 G / A
gnomAD v3:
22:41157255 G / A
gnomAD v4:
chr22-41157255-G-A
Joint Max Group AF 0.16581247 (EAS)
Genomes Max Group AF 0.18570679 (EAS)
Exomes Max Group AF 0.16216315 (EAS)
ClinVar Allele:
169830
ClinVar RCV:
RCV000145954
RCV001594854
RCV002515961
ClinVar Variation:
158562
dbSNP:
20554
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41157255G>A , CM000684.2:g.41157255G>A GRCh38
NC_000022.10:g.41553259G>A , CM000684.1:g.41553259G>A GRCh37
NC_000022.9:g.39883205G>A NCBI36
NG_009817.1:g.69646G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703544.1:c.*1268G>A ENSP00000515365.1:n.*1268G>A
ENST00000703545.1:c.3138G>A
ENST00000263253.9:c.3348G>A MANE Select ENSP00000263253.7:p.Gln1116=
ENST00000674155.1:c.3270G>A ENSP00000501078.1:p.Gln1090=
ENST00000263253.8:c.3348G>A ENSP00000263253.7:p.Gln1116=
ENST00000635691.1:n.56G>A
NM_001429.3:c.3348G>A NP_001420.2:p.Gln1116=
XM_006724165.2:c.3270G>A XP_006724228.1:p.Gln1090=
NM_001362843.1:c.3270G>A NP_001349772.1:p.Gln1090=
NM_001429.4:c.3348G>A MANE Select NP_001420.2:p.Gln1116=
NM_001362843.2:c.3270G>A NP_001349772.1:p.Gln1090=
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