Canonical Allele Identifier: CA147264

Gene: EP300

Linked Data

• ClinVar Variation Id: 93736
• ClinVar RCV Id: RCV000079673 ; RCV001664278 ; RCV001610362 ; RCV001664279
• dbSNP Id: rs20551
• ExAC: 22:41548008 A / G
• gnomAD v2: 22-41548008-A-G
• gnomAD v3: 22-41152004-A-G
• gnomAD v4: 22-41152004-A-G
• MyVariant Identifiers: chr22:g.41548008A>G (hg19) ; chr22:g.41152004A>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41152004A>G , CM000684.2:g.41152004A>G	GRCh38
NC_000022.10:g.41548008A>G , CM000684.1:g.41548008A>G	GRCh37
NC_000022.9:g.39877954A>G	NCBI36
NG_009817.1:g.64395A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*909A>G	ENSP00000515365.1:n.*909A>G
ENST00000703545.1:c.2779A>G
ENST00000263253.9:c.2989A>G MANE Select	ENSP00000263253.7:p.Ile997Val
ENST00000674155.1:c.2911A>G	ENSP00000501078.1:p.Ile971Val
ENST00000263253.8:c.2989A>G	ENSP00000263253.7:p.Ile997Val
NM_001429.3:c.2989A>G	NP_001420.2:p.Ile997Val
XM_006724165.2:c.2911A>G	XP_006724228.1:p.Ile971Val
NM_001362843.1:c.2911A>G	NP_001349772.1:p.Ile971Val
NM_001429.4:c.2989A>G MANE Select	NP_001420.2:p.Ile997Val
NM_001362843.2:c.2911A>G	NP_001349772.1:p.Ile971Val