Canonical Allele Identifier: CA2652499403
Gene: E2F1 HGNC NCBI

Linked Data

gnomAD v4: 20-33675501-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33675501T>C , CM000682.2:g.33675501T>C GRCh38
NC_000020.10:g.32263307T>C , CM000682.1:g.32263307T>C GRCh37
NC_000020.9:g.31726968T>C NCBI36
NG_046988.1:g.15904A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343380.6:c.*1231A>G MANE Select ENSP00000345571.5:n.*1231A>G
NM_005225.2:c.*1231A>G NP_005216.1:n.*1231A>G
NM_005225.3:c.*1231A>G MANE Select NP_005216.1:n.*1231A>G
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