Gene
SCNN1A
sodium channel epithelial 1 subunit alpha
- HGNC 10599(opens in a new tab)
- Ensembl gene ENSG00000111319(opens in a new tab)
- NCBI Gene 6337(opens in a new tab)
Summary
- Cytogenetic location
- 12p13.31
- Coordinates
- Chromosome 12: 6,346,847–6,375,563 (GRCh38)
- Exons
- 13 exons across 28.7 kb
- Protein
- 669 amino acids
- Also known as
- ENaCalpha
- Previous symbols
- SCNN1
- MANE Select transcript
- ENST00000228916.7NM_001038.6
- 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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Monogenic Hypertension & Mineralocorticoid Disorders
- Pseudohypoaldosteronism Type 1
A salt-wasting condition in which the body does not respond to aldosterone, caused by changes in NR3C2 (a milder kidney-limited form) or in the SCNN1 sodium-channel genes (a more severe, multi-organ form).
- ClinGen rates the link strong
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Knowing about it supports early salt supplementation and monitoring of potassium in infancy.
How SCNN1A 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 3.1 kb of the gene's 28.7 kb; 2,010 of those bases code for the protein.
How a genome test reads SCNN1A
28
positions in SCNN1A 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 28.7 kb of SCNN1A, introns included, not only the 3.1 kb of exons.
Traits linked to SCNN1A
The Human Phenotype Ontology lists these as features of the rare conditions SCNN1A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the immune system
- Recurrent bronchiolitis
- Recurrent chest infections
- Recurrent Haemophilus influenzae infection
- Acute infectious pneumonia
- Baby eczema
- Bone infection
- Pimple
- Chronic bronchitis
Show 1 more trait
Laboratory abnormality
- Dehydration
- Elevated sweat chloride
- Increased circulating potassium concentration
- Low blood potassium levels
- Low blood sodium levels
- Metabolic acidosis
- Metabolic alkalosis
- Fever
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.). SCNN1A gene: sodium channel epithelial 1 subunit alpha. Retrieved 17 October 2026, from https://dantelabs.com/genes/scnn1a
Dante Labs. SCNN1A gene: sodium channel epithelial 1 subunit alpha [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/scnn1a
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