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Gene

CACNA1C

calcium voltage-gated channel subunit alpha1 C

Summary

Cytogenetic location
12p13.33
Coordinates
Chromosome 12: 2,052,987–2,697,950 (GRCh38)
Exons
47 exons across 645 kb
Protein
2,138 amino acids
Also known as
Cav1.2, CACH2, CACN2, TS, LQT8
Previous symbols
CCHL1A1, CACNL1A1, CACNA1C-IT2
MANE Select transcript
ENST00000399655.6NM_000719.7
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 report relevant to this gene

  • Long QT Syndrome

    • A disorder of cardiac repolarisation marked by a prolonged QT interval and a risk of dangerous ventricular arrhythmias such as torsades de pointes.

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

      Beta-blockers, ICD placement, activity restriction, genetic counseling

How CACNA1C 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 12, with a bracket where CACNA1C sits. CACNA1C and 16 genes near it on chromosome 12, from 1,408,023 to 3,342,914.Chromosome 1212p13.33p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.331.5 Mb2 Mb2.5 Mb3 MbERC1: 989,998–1,495,933, forward strandERC1WNT5B: 1,529,854–1,647,243, forward strandWNT5BFBXL14: 1,561,841–1,594,853, reverse strandFBXL14ADIPOR2: 1,688,574–1,788,683, forward strandADIPOR2CACNA2D4: 1,791,963–1,918,666, reverse strandCACNA2D4LRTM2: 1,820,267–1,836,753, forward strandLRTM2DCP1B: 1,939,625–2,004,558, reverse strandDCP1BCACNA1C: 2,052,987–2,697,950, forward strandCACNA1CFKBP4: 2,794,290–2,806,410, forward strandFKBP4ITFG2: 2,812,622–2,862,889, forward strandITFG2NRIP2: 2,824,883–2,835,544, reverse strandNRIP2TEX52: 2,849,026–2,857,062, reverse strandTEX52FOXM1: 2,857,676–2,877,197, reverse strandRHNO1: 2,876,258–2,890,261, forward strandTULP3: 2,877,223–2,941,142, forward strandTEAD4: 2,959,031–3,040,676, forward strandTEAD4TSPAN9: 3,071,181–3,286,564, forward strandTSPAN9Diagram of CACNA1C: 47 exons on the forward strand of chromosome 12Exon 2: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 7: 1 known disease-causing siteExon 8: 6 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 4 known disease-causing sitesExon 14: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 19: 4 known disease-causing sitesExon 20: 1 known disease-causing siteExon 24: 2 known disease-causing sitesExon 26: 1 known disease-causing siteExon 27: 3 known disease-causing sitesExon 28: 1 known disease-causing siteExon 30: 1 known disease-causing siteExon 33: 5 known disease-causing sitesExon 35: 2 known disease-causing sitesExon 36: 3 known disease-causing sitesExon 46: 1 known disease-causing siteExon 47: 1 known disease-causing siteExon 1: 2,052,987–2,053,611, 625 basesExon 2: 2,115,224–2,115,545, 322 basesExon 3: 2,120,325–2,120,430, 106 basesExon 4: 2,448,976–2,449,115, 140 basesExon 5: 2,457,567–2,457,706, 140 basesExon 6: 2,486,104–2,486,262, 159 basesExon 7: 2,493,190–2,493,386, 197 basesExon 8: 2,504,842–2,504,945, 104 bases. 1 variant with a page in exon 8. List themExon 9: 2,512,812–2,512,984, 173 basesExon 10: 2,549,943–2,550,033, 91 basesExon 11: 2,556,951–2,556,977, 27 basesExon 12: 2,566,422–2,566,582, 161 bases. 1 variant with a page in exon 12. List themExon 13: 2,567,569–2,567,794, 226 basesExon 14: 2,581,590–2,581,797, 208 basesExon 15: 2,582,822–2,582,942, 121 basesExon 16: 2,584,503–2,584,617, 115 basesExon 17: 2,585,376–2,585,496, 121 basesExon 18: 2,585,835–2,585,904, 70 basesExon 19: 2,593,213–2,593,345, 133 basesExon 20: 2,595,874–2,596,003, 130 basesExon 21: 2,597,230–2,597,289, 60 basesExon 22: 2,601,854–2,601,960, 107 basesExon 23: 2,605,081–2,605,168, 88 basesExon 24: 2,605,679–2,605,786, 108 basesExon 25: 2,606,611–2,606,663, 53 basesExon 26: 2,606,984–2,607,130, 147 bases. 1 variant with a page in exon 26. List themExon 27: 2,608,511–2,608,712, 202 basesExon 28: 2,610,541–2,610,699, 159 basesExon 29: 2,611,903–2,612,013, 111 basesExon 30: 2,634,297–2,634,380, 84 basesExon 31: 2,648,475–2,648,507, 33 basesExon 32: 2,651,640–2,651,768, 129 basesExon 33: 2,653,835–2,653,900, 66 basesExon 34: 2,655,147–2,655,238, 92 basesExon 35: 2,664,825–2,664,990, 166 basesExon 36: 2,665,581–2,665,708, 128 basesExon 37: 2,666,686–2,666,782, 97 basesExon 38: 2,668,933–2,669,035, 103 basesExon 39: 2,674,541–2,674,642, 102 basesExon 40: 2,677,094–2,677,221, 128 basesExon 41: 2,677,733–2,677,867, 135 basesExon 42: 2,679,444–2,679,796, 353 basesExon 43: 2,682,550–2,682,678, 129 basesExon 44: 2,685,736–2,685,842, 107 basesExon 45: 2,686,166–2,686,269, 104 basesExon 46: 2,688,447–2,688,779, 333 basesExon 47: 2,690,900–2,697,950, 7,051 bases110203040475′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 13.7 kb of the gene's 645 kb; 6,417 of those bases code for the protein.

How a genome test reads CACNA1C

65

positions in CACNA1C where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 645 kb of CACNA1C, introns included, not only the 13.7 kb of exons.

Variants with a page (4)

The CACNA1C 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
c.1114-304G>AIntron 72,504,538Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
E1115Kc.3343G>AExon 262,607,117Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
G406Rc.1216G>AExon 82,504,944Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
R518Hc.1553G>AExon 122,566,466Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

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.
  • 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.). CACNA1C gene: calcium voltage-gated channel subunit alpha1 C. Retrieved 17 October 2026, from https://dantelabs.com/genes/cacna1c

Vancouver

Dante Labs. CACNA1C gene: calcium voltage-gated channel subunit alpha1 C [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cacna1c

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