Description
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [Source:HGNC Symbol;Acc:1884]
Gene Synonyms
ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1
Location
Chromosome 7: 117,105,838-117,356,025 forward strand.
GRCh37:CM000669.1
About this gene
This gene has 11 transcripts (splice variants) and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000003084.6 | CFTR-001 | 6128 | 1480aa | ENSP00000003084.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS5773 | A4L9V0 C9J6L5 P13569 Q5I6F9 Q5I6N4 Q5I6N5 Q5I6N6 Q5I6N7 Q6KE95 Q6KEA0 Q6KEA5 Q6KEB2 Q6KEB8 Q6KEC3 Q6KEC8 Q6KED3 Q6KED8 Q6KEE3 Q6KEE7 Q6KEF5 Q6KEF9 Q6KEG3 Q6KEG6 Q6KEG9 Q6KEH3 Q6KEH6 Q6KEH8 Q6KEI2 Q6KEI7 Q6KEI8 Q6KEJ1 Q6KEJ4 Q6KEJ7 Q99989 Q9UJ19 Q9UML7 | NM_000492.3 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000454343.1 | CFTR-201 | 5949 | 1419aa | ENSP00000403677.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A4L9V0 C9J6L5 P13569 Q5I6F9 Q5I6N4 Q5I6N5 Q5I6N6 Q5I6N7 Q6KE95 Q6KEA0 Q6KEA5 Q6KEB2 Q6KEB8 Q6KEC3 Q6KEC8 Q6KED3 Q6KED8 Q6KEE3 Q6KEE7 Q6KEF5 Q6KEF9 Q6KEG3 Q6KEG6 Q6KEG9 Q6KEH6 Q6KEH8 Q6KEI2 Q6KEI7 Q6KEI8 Q6KEJ1 Q6KEJ4 Q6KEJ7 Q9UJ19 Q9UML7 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000426809.1 | CFTR-005 | 4316 | 1438aa | ENSP00000389119.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A4L9V0 C9J6L5 E7EPB6 Q5I6N4 Q5I6N5 Q5I6N7 Q6KEA0 Q6KEA5 Q6KEB2 Q6KEB8 Q6KEC3 Q6KEC8 Q6KED3 Q6KED8 Q6KEE3 Q6KEE7 Q6KEF5 Q6KEF9 Q6KEG3 Q6KEG6 Q6KEG9 Q6KEH3 Q6KEH6 Q6KEH8 Q6KEI2 Q6KEI8 Q6KEJ1 Q6KEJ4 Q6KEJ7 Q9UJ19 Q9UML7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000468795.1 | CFTR-002 | 682 | 190aa | ENSP00000419254.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q6KEC3 Q6KEC8 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000446805.1 | CFTR-004 | 575 | 36aa | ENSP00000417012.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J6L5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000600166.1 | CFTR-008 | 559 | 156aa | ENSP00000470177.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q6KEA0 Q6KEA5 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000608965.1 | CFTR-009 | 896 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000610149.1 | CFTR-010 | 519 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000429014.1 | CFTR-007 | 423 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000546407.1 | CFTR-003 | 222 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000472848.1 | CFTR-006 | 148 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |
