| GENE NAME | SCNN1A |
| CHROMOSOME | 12 |
| ENSEMBL ID | ENSG00000111319 |
| ENTREZ ID | 6337 |
| UNIPROT ACCESSION NUMBER | P37088 |
| GO MOLECULAR FUNCTION | WW domain binding; protein binding; sodium channel activity; ligand-gated sodium channel activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04960; hsa04742; R-HSA-382551; R-HSA-983712; R-HSA-2672351 |
| 4 combinations linked to SCNN1A | OLI802; OLI805; OLI800; OLI803 |
| 5 variants linked to SCNN1A | SCNN1A:c.1069G>A, p.Ala357Thr; SCNN1A:c.1922G>T, p.Cys641Phe; SCNN1A:c.609G>T, p.Leu203Leu; SCNN1A:c.610C>T, p.Arg204Trp; SCNN1A:c.944+35G>A, |
| 1 disease linked to SCNN1A | Cystic fibrosis |