Canonical Allele Identifier: CA411696176

Gene: EP300

Linked Data

• ClinVar Variation Id: 987885
• ClinVar RCV Id: RCV001269286
• dbSNP Id: rs1305375514
• gnomAD v4: 22-41160643-T-C
• MyVariant Identifiers: chr22:g.41556647T>C (hg19) ; chr22:g.41160643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41160643T>C , CM000684.2:g.41160643T>C	GRCh38
NC_000022.10:g.41556647T>C , CM000684.1:g.41556647T>C	GRCh37
NC_000022.9:g.39886593T>C	NCBI36
NG_009817.1:g.73034T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703544.1:c.*1512T>C	ENSP00000515365.1:n.*1512T>C
ENST00000263253.9:c.3592T>C MANE Select	ENSP00000263253.7:p.Tyr1198His
ENST00000674155.1:c.3514T>C	ENSP00000501078.1:p.Tyr1172His
ENST00000263253.8:c.3592T>C	ENSP00000263253.7:p.Tyr1198His
NM_001429.3:c.3592T>C	NP_001420.2:p.Tyr1198His
XM_006724165.2:c.3514T>C	XP_006724228.1:p.Tyr1172His
NM_001362843.1:c.3514T>C	NP_001349772.1:p.Tyr1172His
NM_001429.4:c.3592T>C MANE Select	NP_001420.2:p.Tyr1198His
NM_001362843.2:c.3514T>C	NP_001349772.1:p.Tyr1172His