Canonical Allele Identifier: CA313282772
Gene: E2F1 HGNC NCBI

Linked Data

dbSNP Id: rs973375567
gnomAD v2: 20-32263405-G-A
gnomAD v3: 20-33675599-G-A
gnomAD v4: 20-33675599-G-A
MyVariant Identifiers: chr20:g.32263405G>A (hg19) chr20:g.33675599G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33675599G>A , CM000682.2:g.33675599G>A GRCh38
NC_000020.10:g.32263405G>A , CM000682.1:g.32263405G>A GRCh37
NC_000020.9:g.31727066G>A NCBI36
NG_046988.1:g.15806C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343380.6:c.*1133C>T MANE Select ENSP00000345571.5:n.*1133C>T
NM_005225.2:c.*1133C>T NP_005216.1:n.*1133C>T
NM_005225.3:c.*1133C>T MANE Select NP_005216.1:n.*1133C>T
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