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Gene

CACNA1H

calcium voltage-gated channel subunit alpha1 H

Summary

Cytogenetic location
16p13.3
Coordinates
Chromosome 16: 1,153,106–1,221,768 (GRCh38)
Exons
35 exons across 68.7 kb
Protein
2,353 amino acids
Inheritance
Autosomal dominant
Also known as
Cav3.2
MANE Select transcript
ENST00000348261.11NM_021098.3
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 report relevant to this gene

  • 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.

      • 1 GenCC submitter rates 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.

How CACNA1H is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where CACNA1H sits. CACNA1H and 36 genes near it on chromosome 16, from 687,437 to 1,687,436.Chromosome 1616p13.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.30.8 Mb1 Mb1.2 Mb1.4 Mb1.6 MbWDR24: 684,614–690,444, reverse strandFBXL16: 692,498–705,860, reverse strandMETRN: 715,093–719,796, forward strandMETRNANTKMT: 720,581–722,590, forward strandCCDC78: 722,581–726,954, reverse strandCCDC78HAGHL: 726,494–735,525, forward strandCIAO3: 729,721–741,329, reverse strandCIAO3MSLN: 760,729–768,866, forward strandMSLNL: 769,428–782,054, reverse strandMSLNLRPUSD1: 784,974–788,406, reverse strandRPUSD1CHTF18: 788,046–800,737, forward strandCHTF18GNG13: 798,020–800,770, reverse strandGNG13LMF1: 853,618–981,318, reverse strandLMF1SOX8: 981,444–986,979, forward strandSOX8SSTR5: 1,063,867–1,081,470, forward strandSSTR5C1QTNF8: 1,088,226–1,099,401, reverse strandC1QTNF8CACNA1H: 1,153,106–1,221,768, forward strandCACNA1HTPSG1: 1,221,651–1,225,793, reverse strandTPSG1TPSB2: 1,227,272–1,233,725, reverse strandTPSB2TPSAB1: 1,239,266–1,242,555, forward strandTPSAB1TPSD1: 1,256,059–1,259,008, forward strandTPSD1UBE2I: 1,291,357–1,327,018, forward strandUBE2IBAIAP3: 1,333,638–1,349,439, forward strandBAIAP3TSR3: 1,349,236–1,351,898, reverse strandTSR3GNPTG: 1,351,924–1,365,737, forward strandGNPTGUNKL: 1,363,205–1,414,751, reverse strandUNKLUQCC4: 1,419,752–1,420,756, reverse strandUQCC4PERCC1: 1,431,078–1,434,441, forward strandPERCC1CCDC154: 1,434,383–1,444,556, reverse strandCCDC154CLCN7: 1,444,934–1,475,104, reverse strandCLCN7PTX4: 1,485,886–1,488,981, reverse strandPTX4TELO2: 1,493,329–1,512,551, forward strandTELO2IFT140: 1,510,427–1,612,082, reverse strandIFT140TMEM204: 1,528,674–1,555,580, forward strandTMEM204CRAMP1: 1,612,337–1,677,908, forward strandCRAMP1: 1,632,259–1,686,715, forward strandJPT2: 1,678,256–1,702,859, forward strandJPT2Diagram of CACNA1H: 35 exons on the forward strand of chromosome 16Exon 9: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 25: 1 known disease-causing siteExon 1: 1,153,106–1,153,470, 365 basesExon 2: 1,153,720–1,154,036, 317 basesExon 3: 1,194,972–1,195,083, 112 basesExon 4: 1,195,432–1,195,565, 134 basesExon 5: 1,195,926–1,196,023, 98 basesExon 6: 1,198,615–1,198,774, 160 basesExon 7: 1,200,256–1,200,571, 316 basesExon 8: 1,200,716–1,200,808, 93 basesExon 9: 1,201,663–1,202,452, 790 basesExon 10: 1,204,010–1,204,458, 449 basesExon 11: 1,205,114–1,205,265, 152 basesExon 12: 1,206,104–1,206,289, 186 basesExon 13: 1,207,001–1,207,118, 118 basesExon 14: 1,207,275–1,207,430, 156 basesExon 15: 1,207,770–1,207,860, 91 basesExon 16: 1,208,013–1,208,221, 209 basesExon 17: 1,209,032–1,209,412, 381 basesExon 18: 1,210,035–1,210,135, 101 basesExon 19: 1,210,370–1,210,493, 124 basesExon 20: 1,210,583–1,210,651, 69 basesExon 21: 1,210,787–1,210,971, 185 basesExon 22: 1,211,168–1,211,294, 127 basesExon 23: 1,211,481–1,211,606, 126 basesExon 24: 1,211,716–1,211,805, 90 basesExon 25: 1,211,946–1,212,138, 193 basesExon 26: 1,212,511–1,212,528, 18 basesExon 27: 1,213,780–1,213,931, 152 basesExon 28: 1,214,972–1,215,081, 110 basesExon 29: 1,215,242–1,215,375, 134 basesExon 30: 1,215,523–1,215,593, 71 basesExon 31: 1,216,932–1,217,010, 79 basesExon 32: 1,217,919–1,218,040, 122 basesExon 33: 1,218,210–1,218,651, 442 basesExon 34: 1,218,970–1,219,130, 161 basesExon 35: 1,219,981–1,221,768, 1,788 bases1102030355′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 8.2 kb of the gene's 68.7 kb; 7,062 of those bases code for the protein.

How a genome test reads CACNA1H

4

positions in CACNA1H 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 68.7 kb of CACNA1H, introns included, not only the 8.2 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.). CACNA1H gene: calcium voltage-gated channel subunit alpha1 H. Retrieved 16 October 2026, from https://dantelabs.com/genes/cacna1h

Vancouver

Dante Labs. CACNA1H gene: calcium voltage-gated channel subunit alpha1 H [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cacna1h

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