Gene
KCNH1
potassium voltage-gated channel subfamily H member 1
- HGNC 6250↗(opens in a new tab)
- Ensembl gene ENSG00000143473↗(opens in a new tab)
- NCBI Gene 3756↗(opens in a new tab)
Summary
- Cytogenetic location
- 1q32.2
- Coordinates
- Chromosome 1: 210,678,314–211,134,148 (GRCh38)
- Exons
- 11 exons across 455.8 kb
- Protein
- 989 amino acids
- Also known as
- Kv10.1, eag, h-eag, eag1, hEAG, K(V)10.1
- MANE Select transcript
- ENST00000271751.10NM_172362.3
- 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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How KCNH1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 8.1 kb of the gene's 455.8 kb; 2,970 of those bases code for the protein.
How a genome test reads KCNH1
9
positions in KCNH1 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 455.8 kb of KCNH1, introns included, not only the 8.1 kb of exons.
Traits linked to KCNH1
The Human Phenotype Ontology lists these as features of the rare conditions KCNH1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Depressed nasal bridge
- Downturned corners of mouth
- Full lips
- Gingival fibromatosis
- Long philtrum
- Myopathic facies
- Wide mouth
- Gum enlargement
Show 41 more traits
- Short columella
- Abnormally small head
- Absence of overlap of anterior upper and lower teeth
- Bulbous nose
- Coarse facial features
- Delayed eruption of teeth
- Eye folds
- Highly arched eyebrow
- Long eyelashes
- Thick eyebrow
- Wide nasal bridge
- Wide nose
- Abnormally large tongue
- Bifid uvula
- Big calvaria
- Broad forehead
- Broad nasal tip
- Cleft palate
- Corners of eye widely separated
- Downward slanting of the opening between the eyelids
- Drooping lower lip
- Drooping upper lip
- Extra teeth
- Failure of development of between one and six teeth
- Flat forehead
- Full cheeks
- High forehead
- High frontal hairline
- High palate
- Little lower jaw
- Long, narrow head
- Low frontal hairline
- Nasal tip, upturned
- Open mouth
- Short neck
- Short philtrum
- Tented mouth
- Thick nasal alae
- Zygomatic flattening
- Big lower jaw
- Monobrow
Abnormality of the nervous system
- Epilepsy
- Intellectual disability, severe
- Abnormal shape of brain
- Absent speech development
- EEG abnormality
- Intellectual disability
- Severe global developmental delay
- Global developmental delay
Show 1 more trait
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.
- 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.). KCNH1 gene: potassium voltage-gated channel subfamily H member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnh1
Dante Labs. KCNH1 gene: potassium voltage-gated channel subfamily H member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnh1
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