Canonical Allele Identifier: CA16609101
Gene: EP300 HGNC NCBI

Linked Data

ClinVar Variation Id: 383803
ClinVar RCV Id: RCV000433287 RCV000454987
dbSNP Id: rs1057521737
gnomAD v4: 22-41173768-T-C
MyVariant Identifiers: chr22:g.41569772T>C (hg19) chr22:g.41173768T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.41173768T>C , CM000684.2:g.41173768T>C GRCh38
NC_000022.10:g.41569772T>C , CM000684.1:g.41569772T>C GRCh37
NC_000022.9:g.39899718T>C NCBI36
NG_009817.1:g.86159T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703544.1:c.*2683T>C ENSP00000515365.1:n.*2683T>C
ENST00000263253.9:c.4763T>C MANE Select ENSP00000263253.7:p.Met1588Thr
ENST00000674155.1:c.4685T>C ENSP00000501078.1:p.Met1562Thr
ENST00000263253.8:c.4763T>C ENSP00000263253.7:p.Met1588Thr
NM_001429.3:c.4763T>C NP_001420.2:p.Met1588Thr
XM_006724165.2:c.4685T>C XP_006724228.1:p.Met1562Thr
NM_001362843.1:c.4685T>C NP_001349772.1:p.Met1562Thr
NM_001429.4:c.4763T>C MANE Select NP_001420.2:p.Met1588Thr
NM_001362843.2:c.4685T>C NP_001349772.1:p.Met1562Thr
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