Canonical Allele Identifier: CA411690004

Gene: EP300

Linked Data

• MyVariant Identifiers: chr22:g.41543875G>C (hg19) ; chr22:g.41147871G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41147871G>C , CM000684.2:g.41147871G>C	GRCh38
NC_000022.10:g.41543875G>C , CM000684.1:g.41543875G>C	GRCh37
NC_000022.9:g.39873821G>C	NCBI36
NG_009817.1:g.60262G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703544.1:c.*86G>C	ENSP00000515365.1:n.*86G>C
ENST00000703545.1:c.1956G>C
ENST00000263253.9:c.2166G>C MANE Select	ENSP00000263253.7:p.Gln722His
ENST00000674155.1:c.2088G>C	ENSP00000501078.1:p.Gln696His
ENST00000263253.8:c.2166G>C	ENSP00000263253.7:p.Gln722His
ENST00000634728.1:c.210G>C	ENSP00000488981.1:p.Gln70His
ENST00000635538.1:n.299G>C
NM_001429.3:c.2166G>C	NP_001420.2:p.Gln722His
XM_006724165.2:c.2088G>C	XP_006724228.1:p.Gln696His
NM_001362843.1:c.2088G>C	NP_001349772.1:p.Gln696His
NM_001429.4:c.2166G>C MANE Select	NP_001420.2:p.Gln722His
NM_001362843.2:c.2088G>C	NP_001349772.1:p.Gln696His