Canonical Allele Identifier: CA743745907
Gene: E2F1 HGNC NCBI

Linked Data

dbSNP Id: rs1427489397
gnomAD v3: 20-33675558-G-C
gnomAD v4: 20-33675558-G-C
MyVariant Identifiers: chr20:g.32263364G>C (hg19) chr20:g.33675558G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33675558G>C , CM000682.2:g.33675558G>C GRCh38
NC_000020.10:g.32263364G>C , CM000682.1:g.32263364G>C GRCh37
NC_000020.9:g.31727025G>C NCBI36
NG_046988.1:g.15847C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343380.6:c.*1174C>G MANE Select ENSP00000345571.5:n.*1174C>G
NM_005225.2:c.*1174C>G NP_005216.1:n.*1174C>G
NM_005225.3:c.*1174C>G MANE Select NP_005216.1:n.*1174C>G
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