Skip to content
Use your HSA or FSA funds

Gene

CACNA1D

calcium voltage-gated channel subunit alpha1 D

Summary

Cytogenetic location
3p21.1
Coordinates
Chromosome 3: 53,494,611–53,813,733 (GRCh38)
Exons
48 exons across 319.1 kb
Protein
2,161 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
Cav1.3, CACH3, CACN4
Previous symbols
CCHL1A2, CACNL1A2
MANE Select transcript
ENST00000350061.11NM_001128840.3
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

  • Progressive Cardiac Conduction Disease & Sick Sinus Syndrome

    • Sinoatrial Node Dysfunction and DeafnessAutosomal recessive

      A condition caused by changes in CACNA1D that combines congenital severe hearing loss with a very slow resting heart rate.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong

  • Monogenic Hypertension & Mineralocorticoid Disorders

    • Familial HyperaldosteronismAutosomal dominant

      A group of conditions, including glucocorticoid-remediable aldosteronism (CYP11B1/CYP11B2) and forms caused by CLCN2, KCNJ5 or CACNA1H, in which the adrenal glands make too much aldosterone, causing high blood pressure.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it guides treatment (dexamethasone for glucocorticoid-remediable aldosteronism, aldosterone-blocking drugs more generally) and supports screening of relatives.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
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.

How CACNA1D is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where CACNA1D sits. CACNA1D and 8 genes near it on chromosome 3, from 53,154,172 to 54,154,171.Chromosome 33p21.1p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2953.2 Mb53.4 Mb53.6 Mb53.8 Mb54 MbPRKCD: 53,156,009–53,192,717, forward strandPRKCDTKT: 53,223,040–53,256,055, reverse strandTKTDCP1A: 53,283,429–53,347,683, reverse strandDCP1ACACNA1D: 53,494,611–53,813,733, forward strandCACNA1DCHDH: 53,812,335–53,846,468, reverse strandCHDHIL17RB: 53,845,673–53,873,463, forward strandIL17RBACTR8: 53,863,038–53,882,202, reverse strandACTR8SELENOK: 53,883,496–53,891,885, reverse strandSELENOKCACNA2D3: 54,122,127–55,074,557, forward strandCACNA2D3Diagram of CACNA1D: 48 exons on the forward strand of chromosome 3Exon 5: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 20: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 36: 1 known disease-causing siteExon 45: 1 known disease-causing siteExon 1: 53,494,611–53,495,233, 623 basesExon 2: 53,497,152–53,497,461, 310 basesExon 3: 53,501,615–53,501,720, 106 basesExon 4: 53,650,779–53,650,918, 140 basesExon 5: 53,660,133–53,660,275, 143 basesExon 6: 53,665,660–53,665,812, 153 basesExon 7: 53,666,339–53,666,535, 197 basesExon 8: 53,673,023–53,673,126, 104 basesExon 9: 53,702,641–53,702,810, 170 basesExon 10: 53,718,301–53,718,388, 88 basesExon 11: 53,719,755–53,719,781, 27 basesExon 12: 53,722,314–53,722,474, 161 basesExon 13: 53,723,434–53,723,659, 226 basesExon 14: 53,723,792–53,723,999, 208 basesExon 15: 53,726,879–53,726,999, 121 basesExon 16: 53,730,442–53,730,556, 115 basesExon 17: 53,731,077–53,731,146, 70 basesExon 18: 53,732,016–53,732,082, 67 basesExon 19: 53,732,815–53,732,962, 148 basesExon 20: 53,735,374–53,735,503, 130 basesExon 21: 53,740,280–53,740,339, 60 basesExon 22: 53,743,011–53,743,117, 107 basesExon 23: 53,744,740–53,744,827, 88 basesExon 24: 53,745,624–53,745,731, 108 basesExon 25: 53,745,823–53,745,875, 53 basesExon 26: 53,747,302–53,747,448, 147 basesExon 27: 53,749,268–53,749,469, 202 basesExon 28: 53,751,749–53,751,907, 159 basesExon 29: 53,753,572–53,753,682, 111 basesExon 30: 53,761,998–53,762,081, 84 basesExon 31: 53,769,973–53,770,017, 45 basesExon 32: 53,770,424–53,770,552, 129 basesExon 33: 53,772,833–53,772,898, 66 basesExon 34: 53,774,587–53,774,678, 92 basesExon 35: 53,775,886–53,776,045, 160 basesExon 36: 53,776,603–53,776,730, 128 basesExon 37: 53,776,860–53,776,956, 97 basesExon 38: 53,780,026–53,780,128, 103 basesExon 39: 53,781,566–53,781,667, 102 basesExon 40: 53,786,822–53,786,952, 131 basesExon 41: 53,800,249–53,800,365, 117 basesExon 42: 53,801,058–53,801,425, 368 basesExon 43: 53,802,147–53,802,173, 27 basesExon 44: 53,803,423–53,803,572, 150 basesExon 45: 53,804,983–53,805,146, 164 basesExon 46: 53,808,649–53,808,770, 122 basesExon 47: 53,809,978–53,810,298, 321 basesExon 48: 53,811,113–53,813,733, 2,621 bases151015202530354045485′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 9.4 kb of the gene's 319.1 kb; 6,486 of those bases code for the protein.

How a genome test reads CACNA1D

10

positions in CACNA1D 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 319.1 kb of CACNA1D, introns included, not only the 9.4 kb of exons.

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.). CACNA1D gene: calcium voltage-gated channel subunit alpha1 D. Retrieved 17 October 2026, from https://dantelabs.com/genes/cacna1d

Vancouver

Dante Labs. CACNA1D gene: calcium voltage-gated channel subunit alpha1 D [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cacna1d

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test