Canonical Allele Identifier: CA411696659

Gene: EP300

Linked Data

• gnomAD v4: 22-41160720-A-T
• MyVariant Identifiers: chr22:g.41556724A>T (hg19) ; chr22:g.41160720A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160720A>T , CM000684.2:g.41160720A>T	GRCh38
NC_000022.10:g.41556724A>T , CM000684.1:g.41556724A>T	GRCh37
NC_000022.9:g.39886670A>T	NCBI36
NG_009817.1:g.73111A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1589A>T	ENSP00000515365.1:n.*1589A>T
ENST00000263253.9:c.3669A>T MANE Select	ENSP00000263253.7:p.Gln1223His
ENST00000674155.1:c.3591A>T	ENSP00000501078.1:p.Gln1197His
ENST00000263253.8:c.3669A>T	ENSP00000263253.7:p.Gln1223His
NM_001429.3:c.3669A>T	NP_001420.2:p.Gln1223His
XM_006724165.2:c.3591A>T	XP_006724228.1:p.Gln1197His
NM_001362843.1:c.3591A>T	NP_001349772.1:p.Gln1197His
NM_001429.4:c.3669A>T MANE Select	NP_001420.2:p.Gln1223His
NM_001362843.2:c.3591A>T	NP_001349772.1:p.Gln1197His