{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2404070833",
  "communityStandardTitle": [
    "NM_000631.5(NCF4):c.118-1G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28445840",
        "rs": 28445840
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 36864918,
          "referenceAllele": "G",
          "start": 36864917
        }
      ],
      "hgvs": [
        "NC_000022.11:g.36864918G=",
        "CM000684.2:g.36864918G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 37260960,
          "referenceAllele": "G",
          "start": 37260959
        }
      ],
      "hgvs": [
        "NC_000022.10:g.37260960G=",
        "CM000684.1:g.37260960G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 35590906,
          "referenceAllele": "G",
          "start": 35590905
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35590906G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8931,
          "referenceAllele": "G",
          "start": 8930
        }
      ],
      "hgvs": [
        "NG_023400.1:g.8931G=",
        "LRG_159:g.8931G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003842"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 283,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "ENST00000248899.11:c.118-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248899.6:n.118-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741378",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248899.11:c.118-1G="
          },
          "RefSeq": {
            "hgvs": "NM_000631.5:c.118-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248899.6:n.118-1G="
          },
          "RefSeq": {
            "hgvs": "NP_000622.2:n.118-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 301,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "ENST00000397147.7:c.118-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380334.4:n.118-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 220,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 220,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "ENST00000650698.1:c.-192-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498381.1:n.-192-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 170,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 170,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "ENST00000650827.1:c.-192-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498212.1:n.-192-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 422,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "ENST00000651053.1:n.423-1G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 301,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "ENST00000248899.10:c.118-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248899.6:n.118-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249580"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 301,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "ENST00000397147.6:c.118-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380334.4:n.118-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 216,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 216,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "ENST00000447071.5:c.-192-1G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414958.1:n.-192-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 301,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "NM_000631.4:c.118-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000622.2:n.118-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 301,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "NM_013416.3:c.118-1G=",
        "LRG_159t1:c.118-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_038202.2:n.118-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1083,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1083,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "XM_011530198.1:c.292-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528500.1:n.292-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 749,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 749,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "XM_011530199.1:c.262-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528501.1:n.262-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 351,
          "endIntronDirection": "+",
          "endIntronOffset": 5175,
          "referenceAllele": "C",
          "start": 351,
          "startIntronDirection": "+",
          "startIntronOffset": 5174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040393",
      "geneNCBI_id": 107985578,
      "geneSymbol": "NCF4-AS1",
      "hgvs": [
        "NR_147197.1:n.351+5175C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 665,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 665,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "XM_017028808.1:c.-192-1G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884297.1:n.-192-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 283,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "NM_000631.5:c.118-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000622.2:n.118-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662511",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248899.11:c.118-1G="
          },
          "RefSeq": {
            "hgvs": "NM_000631.5:c.118-1G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248899.6:n.118-1G="
          },
          "RefSeq": {
            "hgvs": "NP_000622.2:n.118-1G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 283,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007662",
      "geneNCBI_id": 4689,
      "geneSymbol": "NCF4",
      "hgvs": [
        "NM_013416.4:c.118-1G="
      ],
      "proteinEffect": {
        "hgvs": "NP_038202.2:n.118-1G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727912"
    }
  ],
  "type": "nucleotide"
}