View CFTR gene homepage

General information
Gene symbol CFTR
Gene name cystic fibrosis transmembrane conductance regulator
Chromosome 7
Chromosomal band q31.2
Imprinted Not imprinted
Genomic reference LRG_663
Transcript reference NM_000492.3, XM_011515751.1, XM_011515752.1, XM_011515753.1, XM_011515754.1
Associated with diseases CF
Citation reference(s) -
Curators (3) Carsten W Lederer, Anastasia Raoukka and Savvas Nikolaou
Total number of public variants reported 5
Unique public DNA variants reported 5
Individuals with public variants 0
Hidden variants 0
Date created June 16, 2016
Date last updated September 18, 2017
Version CFTR:170918

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 (Cystic fibrosis)
HGMD CFTR
GeneCards CFTR
GeneTests CFTR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000011 7 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) NM_000492.3 NP_000483.3 5
00000012 7 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7), transcript variant X1 XM_011515751.1 XP_011514053.1 0
00000013 7 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7), transcript variant X2 XM_011515752.1 XP_011514054.1 0
00000014 7 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7), transcript variant X3 XM_011515753.1 XP_011514055.1 0
00000015 7 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7), transcript variant X4 XM_011515754.1 XP_011514056.1 0


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