Canonical Allele Identifier: CA2652499464
Gene: E2F1 HGNC NCBI

Linked Data

gnomAD v4: 20-33675597-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33675597A>G , CM000682.2:g.33675597A>G GRCh38
NC_000020.10:g.32263403A>G , CM000682.1:g.32263403A>G GRCh37
NC_000020.9:g.31727064A>G NCBI36
NG_046988.1:g.15808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343380.6:c.*1135T>C MANE Select ENSP00000345571.5:n.*1135T>C
NM_005225.2:c.*1135T>C NP_005216.1:n.*1135T>C
NM_005225.3:c.*1135T>C MANE Select NP_005216.1:n.*1135T>C
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