ANO4
anoctamin 4
Summary
Enables intracellularly calcium-gated chloride channel activity. Involved in chloride transmembrane transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1399439 | 12:101,221,239 | A/G | intron variant | — |
| rs75875565 | 12:101,313,741 | G/C | — | — |
| rs555894245 | 12:101,333,158 | G/A | — | uncertain significance |
| rs2540833386 | 12:101,333,185 | A/C | — | uncertain significance |
| rs141833422 | 12:101,336,177 | C/T | — | uncertain significance |
| rs199936621 | 12:101,336,240 | C/A | — | uncertain significance |
| rs1224091418 | 12:101,336,244 | C/G | — | pathogenic |
| rs759710886 | 12:101,365,105 | A/G | — | uncertain significance |
| rs17030834 | 12:101,375,438 | A/C | — | — |
| rs66861122 | 12:101,383,958 | T/G | intron variant | — |
| rs761645448 | 12:101,413,852 | A/T | — | uncertain significance |
| rs7969347 | 12:101,430,893 | A/G | — | uncertain significance |
| rs780211110 | 12:101,433,812 | C/G | — | uncertain significance |
| rs116925463 | 12:101,436,218 | G/A | — | likely benign |
| rs1431920112 | 12:101,437,320 | A/T | — | uncertain significance |
| rs187320601 | 12:101,464,487 | A/G | downstream gene variant | — |
| rs925949498 | 12:101,477,462 | A/T | — | uncertain significance |
| rs765804915 | 12:101,477,501 | C/T | — | uncertain significance |
| rs2541480719 | 12:101,477,556 | G/A | — | uncertain significance |
| rs200403749 | 12:101,477,570 | G/A | — | uncertain significance |
| rs2541480895 | 12:101,477,589 | T/G | — | uncertain significance |
| rs377115870 | 12:101,480,481 | G/A | — | uncertain significance |
| rs2541492742 | 12:101,480,483 | G/A | — | pathogenic |
| rs2541493503 | 12:101,480,575 | C/A | — | pathogenic |
| rs2049521857 | 12:101,480,585 | A/T | — | pathogenic |
| rs2049522225 | 12:101,480,589 | T/A | — | pathogenic |
| rs2541523500 | 12:101,488,037 | T/C | — | uncertain significance |
| rs2541533331 | 12:101,490,382 | A/G | — | pathogenic |
| rs370881866 | 12:101,493,408 | G/A | — | uncertain significance |
| rs762236759 | 12:101,493,438 | A/G | — | uncertain significance |
| rs367780147 | 12:101,493,449 | C/A | — | uncertain significance |
| rs1566247539 | 12:101,493,451 | T/C | — | uncertain significance |
| rs749894195 | 12:101,493,457 | C/T | — | uncertain significance |
| rs200042629 | 12:101,493,497 | G/A | — | uncertain significance |
| rs200708403 | 12:101,504,206 | T/C | — | likely pathogenic |
| rs763712389 | 12:101,505,407 | C/T | — | uncertain significance |
| rs770666618 | 12:101,514,303 | G/A | — | uncertain significance |
| rs536770439 | 12:101,514,318 | C/T | — | uncertain significance |
| rs17031025 | 12:101,514,319 | G/A | — | benign |
| rs756851812 | 12:101,520,722 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.