The CFTR gene homepage

General information
Gene symbol CFTR
Gene name cystic fibrosis transmembrane conductance regulator
Chromosome 7
Chromosomal band q31.2
Imprinted Unknown
Genomic reference LRG_663
Transcript reference NM_000492.3
Associated with diseases CFTR
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants 0
Date created November 21, 2017
Date last updated November 22, 2017
Version CFTR:171122

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 1884
Entrez Gene 1080
PubMed articles CFTR
OMIM - Gene 602421
OMIM - Diseases CFTR (Cystic fibrosis)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000015 7 cystic fibrosis transmembrane conductance regulator NM_000492.3 NP_000483.3 1

Copyright & disclaimer
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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.