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Gene

CFTR

CF transmembrane conductance regulator

Summary

Cytogenetic location
7q31.2
Coordinates
Chromosome 7: 117,480,025–117,668,665 (GRCh38)
Exons
27 exons across 188.6 kb
Protein
1,480 amino acids
Inheritance
Autosomal recessive
Also known as
MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP
Previous symbols
CF, ABCC7
MANE Select transcript
ENST00000003084.11NM_000492.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Cystic Fibrosis

    • Autosomal recessive

      Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      CFTR modulator therapies (ivacaftor, lumacaftor, elexacaftor, tezacaftor), airway clearance, pancreatic enzyme replacement, antibiotic therapy, nutritional management

  • Male Infertility

    • Congenital bilateral absence of the vas deferens (CBAVD)

      Absence of both vas deferens causing obstructive azoospermia, most often due to CFTR variants and occasionally to X-linked ADGRG2 variants.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Sperm retrieval with assisted reproduction is usually possible, and CFTR results inform carrier testing of a partner.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

CFTR and medicines

  • Ivacaftor response

    Pharmacogenomics

    CFTR encodes the chloride channel that is faulty in cystic fibrosis. Ivacaftor helps some faulty channels open, so it works only for people whose CF involves specific responsive variants.

    • Only relevant if you have cystic fibrosis — carrying one of these variants without a second disease-causing CFTR variant does not cause CF.
    • Your CF team confirms eligibility for ivacaftor and newer CFTR modulators with clinical CFTR testing.

    Alleles the report reads

    • S1255Pivacaftor responsive
    • S549Nivacaftor responsive
    • R117Hivacaftor responsive
    • S1251Nivacaftor responsive
    • G551Divacaftor responsive
    • G551Sivacaftor responsive
    • G1244Eivacaftor responsive
    • G1349Divacaftor responsive
    • ivacaftor non-responsive CFTR sequenceivacaftor non-responsive
    • G178Rivacaftor responsive

    Results CPIC describes

    • ivacaftor non-responsive in CF patients
    • ivacaftor responsive in CF patients
    MedicineCPIC levelGuideline
    ivacaftorACFTR and Ivacaftor
    Show 1 more medicine
    MedicineCPIC levelGuideline
    atalurenC

    Calls the ivacaftor-responsive variants from CPIC's guideline; the much longer list of variants now approved for ivacaftor and combination modulators (such as elexacaftor/tezacaftor/ivacaftor) is not assessed.

How CFTR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 7, with a bracket where CFTR sits. CFTR and 5 genes near it on chromosome 7, from 117,074,345 to 118,074,344.Chromosome 77q31.2p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.3117.2 Mb117.4 Mb117.6 Mb117.8 Mb118 MbST7: 116,952,980–117,230,812, forward strandST7: 116,954,391–117,119,719, forward strandWNT2: 117,273,513–117,323,392, reverse strandWNT2ASZ1: 117,363,222–117,428,123, reverse strandASZ1CFTR: 117,480,025–117,668,665, forward strandCFTRCTTNBP2: 117,710,651–117,874,139, reverse strandCTTNBP2Diagram of CFTR: 27 exons on the forward strand of chromosome 7Exon 1: 19 known disease-causing sitesExon 2: 21 known disease-causing sitesExon 3: 32 known disease-causing sitesExon 4: 71 known disease-causing sitesExon 5: 27 known disease-causing sitesExon 6: 36 known disease-causing sitesExon 7: 26 known disease-causing sitesExon 8: 54 known disease-causing sitesExon 9: 24 known disease-causing sitesExon 10: 43 known disease-causing sitesExon 11: 65 known disease-causing sitesExon 12: 30 known disease-causing sitesExon 13: 31 known disease-causing sitesExon 14: 143 known disease-causing sitesExon 15: 26 known disease-causing sitesExon 16: 5 known disease-causing sitesExon 17: 48 known disease-causing sitesExon 18: 14 known disease-causing sitesExon 19: 34 known disease-causing sitesExon 20: 60 known disease-causing sitesExon 21: 25 known disease-causing sitesExon 22: 49 known disease-causing sitesExon 23: 45 known disease-causing sitesExon 24: 26 known disease-causing sitesExon 25: 30 known disease-causing sitesExon 26: 13 known disease-causing sitesExon 27: 32 known disease-causing sitesExon 1: 117,480,025–117,480,147, 123 bases. 7 variants with a page in exon 1. List themExon 2: 117,504,253–117,504,363, 111 bases. 6 variants with a page in exon 2. List themExon 3: 117,509,034–117,509,142, 109 bases. 17 variants with a page in exon 3. List themExon 4: 117,530,899–117,531,114, 216 bases. 24 variants with a page in exon 4. List themExon 5: 117,534,276–117,534,365, 90 bases. 8 variants with a page in exon 5. List themExon 6: 117,535,248–117,535,411, 164 bases. 11 variants with a page in exon 6. List themExon 7: 117,536,548–117,536,673, 126 bases. 6 variants with a page in exon 7. List themExon 8: 117,540,100–117,540,346, 247 bases. 17 variants with a page in exon 8. List themExon 9: 117,542,016–117,542,108, 93 bases. 5 variants with a page in exon 9. List themExon 10: 117,548,641–117,548,823, 183 bases. 11 variants with a page in exon 10. List themExon 11: 117,559,464–117,559,655, 192 bases. 18 variants with a page in exon 11. List themExon 12: 117,587,739–117,587,833, 95 bases. 16 variants with a page in exon 12. List themExon 13: 117,590,353–117,590,439, 87 bases. 9 variants with a page in exon 13. List themExon 14: 117,591,934–117,592,657, 724 bases. 37 variants with a page in exon 14. List themExon 15: 117,594,930–117,595,058, 129 bases. 9 variants with a page in exon 15. List themExon 16: 117,602,826–117,602,863, 38 bases. 1 variant with a page in exon 16. List themExon 17: 117,603,532–117,603,782, 251 bases. 14 variants with a page in exon 17. List themExon 18: 117,606,674–117,606,753, 80 bases. 3 variants with a page in exon 18. List themExon 19: 117,610,519–117,610,669, 151 bases. 10 variants with a page in exon 19. List themExon 20: 117,611,581–117,611,808, 228 bases. 20 variants with a page in exon 20. List themExon 21: 117,614,613–117,614,713, 101 bases. 3 variants with a page in exon 21. List themExon 22: 117,627,522–117,627,770, 249 bases. 15 variants with a page in exon 22. List themExon 23: 117,642,438–117,642,593, 156 bases. 14 variants with a page in exon 23. List themExon 24: 117,652,842–117,652,931, 90 bases. 9 variants with a page in exon 24. List themExon 25: 117,664,688–117,664,860, 173 bases. 11 variants with a page in exon 25. List themExon 26: 117,665,459–117,665,564, 106 bases. 5 variants with a page in exon 26. List themExon 27: 117,666,908–117,668,665, 1,758 bases. 2 variants with a page in exon 27. List them11020275′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6.1 kb of the gene's 188.6 kb; 4,443 of those bases code for the protein.

How a genome test reads CFTR

1,203

positions in CFTR where ClinVar classes a change as pathogenic or likely pathogenic

52 of them (4.3%) fall in regions short reads find hard.

  • Low mappability (52 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 188.6 kb of CFTR, introns included, not only the 6.1 kb of exons.

Variants with a page (369)

The CFTR variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A455Ec.1364C>AExon 10117,548,795Pathogenic4 stars out of 4 practice guideline
c.489+1G>T621+1G>TIntron 4117,531,115Pathogenic4 stars out of 4 practice guideline
c.579+1G>T711+1G>TIntron 5117,534,366Pathogenic4 stars out of 4 practice guideline
c.1585-1G>A1717-1G->AIntron 11117,587,738Pathogenic4 stars out of 4 practice guideline
c.1766+1G>A1898+1G>AIntron 13117,590,440Pathogenic4 stars out of 4 practice guideline
c.2657+5G>A2789+5G>AIntron 16117,602,868Pathogenic4 stars out of 4 practice guideline
c.2988+1G>A3120+1G>AIntron 18117,606,754Pathogenic4 stars out of 4 practice guideline
c.3718-2477C>T3849+10kbC->TIntron 22117,639,961Pathogenic4 stars out of 4 practice guideline
F508delc.1521_1523delExon 11117,559,590Pathogenic4 stars out of 4 practice guideline
G85Ec.254G>AExon 3117,509,123Pathogenic4 stars out of 4 practice guideline

See all 369 CFTR variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • CPIC and PharmGKB: the alleles, results and medicines.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CFTR gene: CF transmembrane conductance regulator. Retrieved 16 October 2026, from https://dantelabs.com/genes/cftr

Vancouver

Dante Labs. CFTR gene: CF transmembrane conductance regulator [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cftr

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