Canonical Allele Identifier: CA2652499432
Gene: E2F1 HGNC NCBI

Linked Data

gnomAD v4: 20-33675538-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33675538G>A , CM000682.2:g.33675538G>A GRCh38
NC_000020.10:g.32263344G>A , CM000682.1:g.32263344G>A GRCh37
NC_000020.9:g.31727005G>A NCBI36
NG_046988.1:g.15867C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343380.6:c.*1194C>T MANE Select ENSP00000345571.5:n.*1194C>T
NM_005225.2:c.*1194C>T NP_005216.1:n.*1194C>T
NM_005225.3:c.*1194C>T MANE Select NP_005216.1:n.*1194C>T
Search 100 bp 5'
Search 100 bp 3'