Gene
CHRND
cholinergic receptor nicotinic delta subunit
- HGNC 1965(opens in a new tab)
- Ensembl gene ENSG00000135902(opens in a new tab)
- NCBI Gene 1144(opens in a new tab)
Summary
- Cytogenetic location
- 2q37.1
- Coordinates
- Chromosome 2: 232,526,160–232,536,664 (GRCh38)
- Exons
- 12 exons across 10.5 kb
- Protein
- 517 amino acids
- Previous symbols
- ACHRD
- MANE Select transcript
- ENST00000258385.8NM_000751.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Congenital Myasthenic Syndrome
- Congenital Myasthenic Syndrome (All Types)
Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.
How CHRND is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3 kb of the gene's 10.5 kb; 1,554 of those bases code for the protein.
How a genome test reads CHRND
39
positions in CHRND where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 10.5 kb of CHRND, introns included, not only the 3 kb of exons.
Traits linked to CHRND
The Human Phenotype Ontology lists these as features of the rare conditions CHRND can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CHRND gene: cholinergic receptor nicotinic delta subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/chrnd
Dante Labs. CHRND gene: cholinergic receptor nicotinic delta subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/chrnd
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