Canonical Allele Identifier: CA635278769
Gene: E2F1 HGNC NCBI

Linked Data

dbSNP Id: rs1364812552
gnomAD v2: 20-32263341-C-T
gnomAD v3: 20-33675535-C-T
gnomAD v4: 20-33675535-C-T
MyVariant Identifiers: chr20:g.32263341C>T (hg19) chr20:g.33675535C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33675535C>T , CM000682.2:g.33675535C>T GRCh38
NC_000020.10:g.32263341C>T , CM000682.1:g.32263341C>T GRCh37
NC_000020.9:g.31727002C>T NCBI36
NG_046988.1:g.15870G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343380.6:c.*1197G>A MANE Select ENSP00000345571.5:n.*1197G>A
NM_005225.2:c.*1197G>A NP_005216.1:n.*1197G>A
NM_005225.3:c.*1197G>A MANE Select NP_005216.1:n.*1197G>A
Search 100 bp 5'
Search 100 bp 3'