Canonical Allele Identifier: CA2652499430
Gene: E2F1 HGNC NCBI

Linked Data

gnomAD v4: 20-33675535-C-A
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000343380.6:c.*1197G>T MANE Select ENSP00000345571.5:n.*1197G>T
NM_005225.2:c.*1197G>T NP_005216.1:n.*1197G>T
NM_005225.3:c.*1197G>T MANE Select NP_005216.1:n.*1197G>T
Search 100 bp 5'
Search 100 bp 3'