Canonical Allele Identifier: CA514795075

Gene: EP300

Linked Data

• dbSNP Id: rs2059220948
• gnomAD v3: 22-41178842-T-C
• gnomAD v4: 22-41178842-T-C
• COSMIC: COSM4929999
• MyVariant Identifiers: chr22:g.41574846T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41178842T>C , CM000684.2:g.41178842T>C	GRCh38
NC_000022.10:g.41574846T>C , CM000684.1:g.41574846T>C	GRCh37
NC_000022.9:g.39904792T>C	NCBI36
NG_009817.1:g.91233T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263253.9:c.7131T>C MANE Select	ENSP00000263253.7:p.Ala2377=
ENST00000674155.1:c.7053T>C	ENSP00000501078.1:p.Ala2351=
ENST00000263253.8:c.7131T>C	ENSP00000263253.7:p.Ala2377=
NM_001429.3:c.7131T>C	NP_001420.2:p.Ala2377=
XM_006724165.2:c.7053T>C	XP_006724228.1:p.Ala2351=
NM_001362843.1:c.7053T>C	NP_001349772.1:p.Ala2351=
NM_001429.4:c.7131T>C MANE Select	NP_001420.2:p.Ala2377=
NM_001362843.2:c.7053T>C	NP_001349772.1:p.Ala2351=