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 NG_016465.4
Transcript reference NM_000492.3
Associated with diseases CF, CFTR-related
Citation reference(s) -
Curators (2) Ника Валентиновна Петрова and Тамара Симакова
Total number of public variants reported 225
Unique public DNA variants reported 223
Individuals with public variants 140
Hidden variants 365
Date created March 24, 2016
Date last updated May 07, 2018
Version CFTR:180507

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 CF (Муковисцидоз (Cystic fibrosis))

Active transcripts




NCBI ID     

NCBI Protein ID     

00000001 7 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) NM_000492.3 NP_000483.3 225