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Gene

SERPINC1

serpin family C member 1

Summary

Cytogenetic location
1q25.1
Coordinates
Chromosome 1: 173,903,800–173,917,327 (GRCh38)
Exons
7 exons across 13.5 kb
Protein
464 amino acids
Also known as
ATIII, MGC22579
Previous symbols
AT3
MANE Select transcript
ENST00000367698.4NM_000488.4
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 report relevant to this gene

  • Thrombophilia

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

      Anticoagulation (duration by genotype); avoid estrogen-containing contraceptives; LMWH for pregnancy prophylaxis; extended post-surgical anticoagulation; lifelong anticoagulation for compound/high-risk genotypes

How SERPINC1 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 1, with a bracket where SERPINC1 sits. SERPINC1 and 13 genes near it on chromosome 1, from 173,410,564 to 174,410,563.Chromosome 11q25.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44173.6 Mb173.8 Mb174 Mb174.2 Mb174.4 MbTNFSF4: 173,162,645–173,477,583, reverse strandTNFSF4PRDX6: 173,476,814–173,494,013, forward strandPRDX6SLC9C2: 173,500,460–173,603,077, reverse strandSLC9C2: 173,596,060–173,669,837, reverse strandANKRD45: 173,606,033–173,669,868, reverse strandANKRD45TEX50: 173,635,338–173,637,130, forward strandTEX50KLHL20: 173,714,909–173,787,505, forward strandKLHL20CENPL: 173,794,851–173,824,925, reverse strandCENPLDARS2: 173,824,540–173,858,808, forward strandDARS2ZBTB37: 173,868,082–173,903,547, forward strandZBTB37SERPINC1: 173,903,800–173,917,327, reverse strandSERPINC1RC3H1: 173,931,084–174,022,418, reverse strandRC3H1: 174,022,122–174,022,298, reverse strandRABGAP1L: 174,159,339–174,995,308, forward strandRABGAP1LDiagram of SERPINC1: 7 exons on the reverse strand of chromosome 1Exon 7: 13 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 5: 19 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 3: 18 known disease-causing sitesExon 2: 26 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 7: 173,903,800–173,904,065, 266 bases. 11 variants with a page in exon 7. List themExon 6: 173,907,450–173,907,514, 65 bases. 3 variants with a page in exon 6. List themExon 5: 173,909,552–173,909,942, 391 bases. 8 variants with a page in exon 5. List themExon 4: 173,910,754–173,910,891, 138 bases. 1 variant with a page in exon 4. List themExon 3: 173,911,799–173,912,014, 216 bases. 8 variants with a page in exon 3. List themExon 2: 173,914,553–173,914,919, 367 bases. 10 variants with a page in exon 2. List themExon 1: 173,917,219–173,917,327, 109 bases76543215′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 1.6 kb of the gene's 13.5 kb; 1,395 of those bases code for the protein.

How a genome test reads SERPINC1

104

positions in SERPINC1 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 13.5 kb of SERPINC1, introns included, not only the 1.6 kb of exons.

Variants with a page (45)

The SERPINC1 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
A414Tc.1240G>AExon 7173,904,044Likely pathogenic3 stars out of 4 reviewed by expert panel
A416Pc.1246G>CExon 7173,904,038Pathogenic3 stars out of 4 reviewed by expert panel
A416Sc.1246G>TExon 7173,904,038Pathogenic3 stars out of 4 reviewed by expert panel
A436Tc.1306G>AExon 7173,903,978Likely pathogenic3 stars out of 4 reviewed by expert panel
c.624+1G>AIntron 3173,911,798Likely pathogenic3 stars out of 4 reviewed by expert panel
c.1154-14G>AIntron 5173,907,528Pathogenic3 stars out of 4 reviewed by expert panel
c.1218+2T>CIntron 6173,907,448Likely pathogenic3 stars out of 4 reviewed by expert panel
c.1219-2A>GIntron 6173,904,067Likely pathogenic3 stars out of 4 reviewed by expert panel
E277Vfs*20c.830_831delExon 5173,909,873Pathogenic3 stars out of 4 reviewed by expert panel
F94Ifs*19c.280_283delExon 2173,914,677Pathogenic3 stars out of 4 reviewed by expert panel

See all 45 SERPINC1 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.
  • 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.). SERPINC1 gene: serpin family C member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/serpinc1

Vancouver

Dante Labs. SERPINC1 gene: serpin family C member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/serpinc1

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