Canonical Allele Identifier: CA2652499414
Gene: E2F1 HGNC NCBI

Linked Data

gnomAD v4: 20-33675517-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33675517G>T , CM000682.2:g.33675517G>T GRCh38
NC_000020.10:g.32263323G>T , CM000682.1:g.32263323G>T GRCh37
NC_000020.9:g.31726984G>T NCBI36
NG_046988.1:g.15888C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343380.6:c.*1215C>A MANE Select ENSP00000345571.5:n.*1215C>A
NM_005225.2:c.*1215C>A NP_005216.1:n.*1215C>A
NM_005225.3:c.*1215C>A MANE Select NP_005216.1:n.*1215C>A
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