Canonical Allele Identifier: CA10252784
Gene: EP300 HGNC NCBI
MutSpliceDB:
CA10252784
MyVariant.info:
GRCh38 chr22:g.41147946G>A
GRCh37 chr22:g.41543950G>A
gnomAD v2:
22:41543950 G / A
gnomAD v3:
22:41147946 G / A
gnomAD v4:
chr22-41147946-G-A
Joint Max Group AF 0.00002089 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002099 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41147946G>A , CM000684.2:g.41147946G>A GRCh38
NC_000022.10:g.41543950G>A , CM000684.1:g.41543950G>A GRCh37
NC_000022.9:g.39873896G>A NCBI36
NG_009817.1:g.60337G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703544.1:c.*161G>A ENSP00000515365.1:n.*161G>A
ENST00000703545.1:c.2031G>A
ENST00000263253.9:c.2241G>A MANE Select ENSP00000263253.7:p.Pro747=
ENST00000674155.1:c.2163G>A ENSP00000501078.1:p.Pro721=
ENST00000263253.8:c.2241G>A ENSP00000263253.7:p.Pro747=
ENST00000634728.1:c.285G>A ENSP00000488981.1:p.Pro95=
NM_001429.3:c.2241G>A NP_001420.2:p.Pro747=
XM_006724165.2:c.2163G>A XP_006724228.1:p.Pro721=
NM_001362843.1:c.2163G>A NP_001349772.1:p.Pro721=
NM_001429.4:c.2241G>A MANE Select NP_001420.2:p.Pro747=
NM_001362843.2:c.2163G>A NP_001349772.1:p.Pro721=
Search 100 bp 5'
Search 100 bp 3'