CFTR gene homepage

General information
Gene symbol CFTR
Gene name cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Chromosome 7
Chromosomal band q31-q32
Imprinted Not imprinted
Genomic reference NG_016465.3
Transcript reference NM_000492.3
Exon/intron information NM_000492.3 exon/intron table
Associated with diseases BESC-1, CBAVD, CF, PCTT
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 726
Unique public DNA variants reported 479
Individuals with public variants 58
Hidden variants 38
Date created April 05, 2011
Date last updated October 23, 2019
Version CFTR:191023

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000492.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Cystic Fibrosis Mutation Database (CFTR1)
CFTR2 - Clinical and Functional Translation of CFTR website
HGNC 1884
Entrez Gene 1080
PubMed articles CFTR
OMIM - Gene 602421
OMIM - Diseases BESC-1 (bronchiectasis, with/without elevated sweat chloride, type 1, modifier of (BESC-1))
CBAVD (vas deferens, congenital bilateral absence (CBAVD))
CF (cystic fibrosis (CF))
PCTT (pancreatitis (PCTT))
GeneCards CFTR
GeneTests CFTR

Active transcripts




NCBI ID     

NCBI Protein ID     

00000116 7 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) NM_000492.3 NP_000483.3 726

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.