Canonical Allele Identifier: CA2656909485
Gene: EP300 HGNC NCBI

Linked Data

gnomAD v4: 22-41160600-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41160600T>G , CM000684.2:g.41160600T>G GRCh38
NC_000022.10:g.41556604T>G , CM000684.1:g.41556604T>G GRCh37
NC_000022.9:g.39886550T>G NCBI36
NG_009817.1:g.72991T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000703544.1:c.*1511-42T>G ENSP00000515365.1:n.*1511-42T>G
ENST00000263253.9:c.3591-42T>G MANE Select ENSP00000263253.7:n.3591-42T>G
ENST00000674155.1:c.3513-42T>G ENSP00000501078.1:n.3513-42T>G
ENST00000263253.8:c.3591-42T>G ENSP00000263253.7:n.3591-42T>G
NM_001429.3:c.3591-42T>G NP_001420.2:n.3591-42T>G
XM_006724165.2:c.3513-42T>G XP_006724228.1:n.3513-42T>G
NM_001362843.1:c.3513-42T>G NP_001349772.1:n.3513-42T>G
NM_001429.4:c.3591-42T>G MANE Select NP_001420.2:n.3591-42T>G
NM_001362843.2:c.3513-42T>G NP_001349772.1:n.3513-42T>G
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