The CHRNE gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol CHRNE
Gene name cholinergic receptor, nicotinic, epsilon (muscle)
Chromosome 17
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_008029.2
Transcript reference NM_000080.3
Exon/intron information NM_000080.3 exon/intron table
Associated with diseases CMS4A, CMS4B, CMS4C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 462
Unique public DNA variants reported 180
Individuals with public variants 417
Hidden variants 20
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:
Date created February 01, 2011
Date last updated May 09, 2022
Version CHRNE:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000080.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 1966
Entrez Gene 1145
PubMed articles CHRNE
OMIM - Gene 100725
OMIM - Diseases CMS4A (myasthenic syndrome, congenital, type 4A, slow-channel (CMS-4A))
CMS4B (myasthenic syndrome, congenital, type 4B, fast-channel (CMS-4B))
CMS4C (myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency (CMS-4C))
GeneCards CHRNE
GeneTests CHRNE
Orphanet CHRNE

Active transcripts




NCBI ID     

NCBI Protein ID     

00005154 17 cholinergic receptor, nicotinic, epsilon NM_000080.3 NP_000071.1 462

Copyright & disclaimer
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