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Gene

C1R

complement C1r

Summary

Cytogenetic location
12p13.31
Coordinates
Chromosome 12: 7,080,219–7,092,445 (GRCh38)
Exons
11 exons across 12.2 kb
Protein
705 amino acids
MANE Select transcript
ENST00000647956.2NM_001733.7
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

How C1R is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where C1R sits. C1R and 37 genes near it on chromosome 12, from 6,586,332 to 7,586,331.Chromosome 1212p13.31p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.336.6 Mb6.8 Mb7 Mb7.2 Mb7.4 Mb: 6,556,886–6,607,367, reverse strandCHD4: 6,570,081–6,614,982, reverse strandCHD4LPAR5: 6,618,835–6,636,444, reverse strandLPAR5ACRBP: 6,638,075–6,647,441, reverse strandACRBPING4: 6,650,282–6,663,180, reverse strandING4ZNF384: 6,665,037–6,689,572, reverse strandZNF384PIANP: 6,693,791–6,700,859, reverse strandPIANPCOPS7A: 6,724,014–6,732,462, forward strandCOPS7AMLF2: 6,747,986–6,768,932, reverse strandMLF2PTMS: 6,765,516–6,770,952, forward strandPTMSLAG3: 6,772,360–6,778,455, forward strandLAG3CD4: 6,786,858–6,820,807, forward strandCD4GPR162: 6,821,624–6,829,972, forward strandP3H3: 6,828,220–6,839,867, forward strandGNB3: 6,839,954–6,847,393, forward strandCDCA3: 6,844,723–6,852,353, reverse strandUSP5: 6,852,098–6,866,632, forward strandUSP5TPI1: 6,867,119–6,878,513, forward strandTPI1SPSB2: 6,870,934–6,889,358, reverse strandSPSB2LRRC23: 6,873,455–6,914,243, forward strandLRRC23ENO2: 6,913,745–6,923,970, forward strandENO2ATN1: 6,924,454–6,942,322, forward strandATN1C12orf57: 6,942,919–6,946,009, forward strandRNU7-1: 6,943,816–6,943,878, forward strandPTPN6: 6,946,417–6,961,316, forward strandPHB2: 6,965,327–6,970,841, reverse strandEMG1: 6,970,765–6,979,939, forward strandEMG1: 6,970,921–6,997,428, forward strandLPCAT3: 6,972,027–7,018,779, reverse strandLPCAT3C1S: 6,988,259–7,071,281, forward strandC1SC1R: 7,080,219–7,092,445, reverse strandC1RC1RL: 7,089,587–7,109,245, reverse strandC1RLRBP5: 7,115,736–7,128,891, reverse strandRBP5CLSTN3: 7,128,077–7,158,945, forward strandCLSTN3PEX5: 7,188,653–7,218,574, forward strandPEX5ACSM4: 7,304,072–7,328,719, forward strandACSM4CD163L1: 7,346,685–7,479,897, reverse strandCD163L1CD163: 7,469,417–7,503,911, reverse strandCD163Diagram of C1R: 11 exons on the reverse strand of chromosome 12Exon 11: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 4 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 2: 1 known disease-causing siteExon 11: 7,080,219–7,081,301, 1,083 basesExon 10: 7,082,032–7,082,106, 75 basesExon 9: 7,085,861–7,086,016, 156 basesExon 8: 7,086,379–7,086,457, 79 basesExon 7: 7,088,610–7,088,731, 122 basesExon 6: 7,088,839–7,088,986, 148 basesExon 5: 7,089,293–7,089,489, 197 basesExon 4: 7,089,587–7,089,733, 147 basesExon 3: 7,090,056–7,090,248, 193 basesExon 2: 7,091,452–7,091,680, 229 basesExon 1: 7,092,387–7,092,445, 59 bases11109876543215′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 2.5 kb of the gene's 12.2 kb; 2,118 of those bases code for the protein.

How a genome test reads C1R

16

positions in C1R 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 12.2 kb of C1R, introns included, not only the 2.5 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.). C1R gene: complement C1r. Retrieved 16 October 2026, from https://dantelabs.com/genes/c1r

Vancouver

Dante Labs. C1R gene: complement C1r [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/c1r

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