Gene
KCNQ1
potassium voltage-gated channel subfamily Q member 1
- HGNC 6294(opens in a new tab)
- Ensembl gene ENSG00000053918(opens in a new tab)
- NCBI Gene 3784(opens in a new tab)
Summary
- Cytogenetic location
- 11p15.5-p15.4
- Coordinates
- Chromosome 11: 2,445,008–2,849,105 (GRCh38)
- Exons
- 16 exons across 404.1 kb
- Protein
- 676 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1
- Previous symbols
- LQT, KCNA9
- MANE Select transcript
- ENST00000155840.12NM_000218.3
- 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.
Read KCNQ1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
Familial Atrial Fibrillation
- Autosomal dominant
Atrial fibrillation running in families, linked to changes in genes such as KCNQ1, KCNJ2, GJA5, MYL4, NPPA and SCN5A.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing about it supports earlier ECG checks for relatives and timely discussion of stroke prevention.
Long QT Syndrome
A disorder of cardiac repolarisation marked by a prolonged QT interval and a risk of dangerous ventricular arrhythmias such as torsades de pointes.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Beta-blockers, ICD placement, activity restriction, genetic counseling
Short Qt Syndrome
- Autosomal dominant
A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified
- ClinGen rates the link strong
- 3 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How KCNQ1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
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 3.2 kb of the gene's 404.1 kb; 2,031 of those bases code for the protein.
How a genome test reads KCNQ1
369
positions in KCNQ1 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 404.1 kb of KCNQ1, introns included, not only the 3.2 kb of exons.
Variants with a page (120)
The KCNQ1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.477+1G>A | Intron 2 | 2,528,019 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.477+5G>A | Intron 2 | 2,528,023 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1032G>A | Exon 7 | 2,583,545 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| G589D | c.1766G>A | Exon 15 | 2,778,009 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L273F | c.817C>T | Exon 6 | 2,572,882 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R366W | c.1096C>T | Exon 8 | 2,585,275 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R518X | c.1552C>T | Exon 12 | 2,768,881 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| S225L | c.674C>T | Exon 4 | 2,571,394 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V254M | c.760G>A | Exon 5 | 2,572,089 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A178T | c.532G>A | Exon 3 | 2,570,682 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Traits linked to KCNQ1
The Human Phenotype Ontology lists these as features of the rare conditions KCNQ1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Fainting spell
- Prolonged QTc interval
- Shortened QT interval
- Permanent atrial fibrillation
- Slow heartbeats
- Abnormal heart rate
- Palpitations
- Paroxysmal atrial fibrillation
Show 10 more traits
- Quivering upper heart chambers resulting in irregular heartbeat
- Torsade de pointes
- Ventricular fibrillation
- Heart attack
- Interruption of electrical communication between upper and lower chambers of heart
- Sudden cardiac death
- Ventricular arrhythmia
- Disease of the heart muscle
- Enlarged heart
- Prolonged QT interval
Abnormality of the genitourinary system
- Enlarged kidney
- Gonadoblastoma
- Increased calcium level in kidney
- Kidney stone
- Nephroblastoma
- Overgrowth of external genitalia
- Renal cortical cysts
- Undescended testes
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.
- 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.). KCNQ1 gene: potassium voltage-gated channel subfamily Q member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/kcnq1
Dante Labs. KCNQ1 gene: potassium voltage-gated channel subfamily Q member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kcnq1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks