Canonical Allele Identifier: CA313282749
Gene: E2F1 HGNC NCBI

Linked Data

dbSNP Id: rs924553480
gnomAD v3: 20-33675549-T-G
gnomAD v4: 20-33675549-T-G
MyVariant Identifiers: chr20:g.32263355T>G (hg19) chr20:g.33675549T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33675549T>G , CM000682.2:g.33675549T>G GRCh38
NC_000020.10:g.32263355T>G , CM000682.1:g.32263355T>G GRCh37
NC_000020.9:g.31727016T>G NCBI36
NG_046988.1:g.15856A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343380.6:c.*1183A>C MANE Select ENSP00000345571.5:n.*1183A>C
NM_005225.2:c.*1183A>C NP_005216.1:n.*1183A>C
NM_005225.3:c.*1183A>C MANE Select NP_005216.1:n.*1183A>C
Search 100 bp 5'
Search 100 bp 3'