Canonical Allele Identifier: CA10252137
Gene: EP300 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41093016T>C , CM000684.2:g.41093016T>C GRCh38
NC_000022.10:g.41489020T>C , CM000684.1:g.41489020T>C GRCh37
NC_000022.9:g.39818966T>C NCBI36
NG_009817.1:g.5407T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703544.1:c.12T>C ENSP00000515365.1:p.Asn4=
ENST00000263253.9:c.12T>C MANE Select ENSP00000263253.7:p.Asn4=
ENST00000674155.1:c.12T>C ENSP00000501078.1:p.Asn4=
ENST00000263253.8:c.12T>C ENSP00000263253.7:p.Asn4=
NM_001429.3:c.12T>C NP_001420.2:p.Asn4=
XM_006724165.2:c.12T>C XP_006724228.1:p.Asn4=
NM_001362843.1:c.12T>C NP_001349772.1:p.Asn4=
NM_001429.4:c.12T>C MANE Select NP_001420.2:p.Asn4=
NM_001362843.2:c.12T>C NP_001349772.1:p.Asn4=