Canonical Allele Identifier: CA10252186

Gene: EP300

Linked Data

• ClinVar Variation Id: 258098
• ClinVar RCV Id: RCV001668475 ; RCV002518612
• dbSNP Id: rs5758235
• ExAC: 22:41513175 T / C
• gnomAD v2: 22-41513175-T-C
• gnomAD v3: 22-41117171-T-C
• gnomAD v4: 22-41117171-T-C
• MyVariant Identifiers: chr22:g.41513175T>C (hg19) ; chr22:g.41117171T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41117171T>C , CM000684.2:g.41117171T>C	GRCh38
NC_000022.10:g.41513175T>C , CM000684.1:g.41513175T>C	GRCh37
NC_000022.9:g.39843121T>C	NCBI36
NG_009817.1:g.29562T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.95-16T>C	ENSP00000515365.1:n.95-16T>C
ENST00000263253.9:c.95-16T>C MANE Select	ENSP00000263253.7:n.95-16T>C
ENST00000637592.1:n.75-16T>C
ENST00000674155.1:c.95-16T>C	ENSP00000501078.1:n.95-16T>C
ENST00000263253.8:c.95-16T>C	ENSP00000263253.7:n.95-16T>C
NM_001429.3:c.95-16T>C	NP_001420.2:n.95-16T>C
XM_006724165.2:c.95-16T>C	XP_006724228.1:n.95-16T>C
NM_001362843.1:c.95-16T>C	NP_001349772.1:n.95-16T>C
NM_001429.4:c.95-16T>C MANE Select	NP_001420.2:n.95-16T>C
NM_001362843.2:c.95-16T>C	NP_001349772.1:n.95-16T>C