{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2434248672",
  "communityStandardTitle": [
    "NM_007268.3(VSIG4):c.*379C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1044165",
        "rs": 1044165
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 66021884,
          "referenceAllele": "G",
          "start": 66021883
        }
      ],
      "hgvs": [
        "NC_000023.11:g.66021884G=",
        "CM000685.2:g.66021884G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 65241726,
          "referenceAllele": "G",
          "start": 65241725
        }
      ],
      "hgvs": [
        "NC_000023.10:g.65241726G=",
        "CM000685.1:g.65241726G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 65158451,
          "referenceAllele": "G",
          "start": 65158450
        }
      ],
      "hgvs": [
        "NC_000023.9:g.65158451G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 23242,
          "referenceAllele": "C",
          "start": 23241
        }
      ],
      "hgvs": [
        "NG_021306.1:g.23242C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003551"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1661,
          "referenceAllele": "C",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "ENST00000374737.9:c.*379C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363869.4:n.*379C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374737.9:c.*379C="
          },
          "RefSeq": {
            "hgvs": "NM_007268.3:c.*379C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363869.4:n.*379C="
          },
          "RefSeq": {
            "hgvs": "NP_009199.1:n.*379C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1835,
          "referenceAllele": "C",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "ENST00000651578.1:c.*829C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498502.1:n.*829C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771745"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1688,
          "referenceAllele": "C",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "ENST00000374737.8:c.*379C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363869.4:n.*379C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1359,
          "referenceAllele": "C",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "ENST00000412866.2:c.*379C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394143.2:n.*379C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282801"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "ENST00000427538.5:c.1024C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "ENST00000455586.6:c.*953C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411581.2:n.*953C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1424,
          "referenceAllele": "C",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "NM_001100431.1:c.*379C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001093901.1:n.*379C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "NM_001184830.1:c.*953C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171759.1:n.*953C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "NM_001184831.1:c.*953C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171760.1:n.*953C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "NM_001257403.1:c.*201C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244332.1:n.*201C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1706,
          "referenceAllele": "C",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "NM_007268.2:c.*379C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009199.1:n.*379C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032189"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "XM_017029251.2:c.*201C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884740.1:n.*201C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1661,
          "referenceAllele": "C",
          "start": 1660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "NM_007268.3:c.*379C="
      ],
      "proteinEffect": {
        "hgvs": "NP_009199.1:n.*379C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374737.9:c.*379C="
          },
          "RefSeq": {
            "hgvs": "NM_007268.3:c.*379C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363869.4:n.*379C="
          },
          "RefSeq": {
            "hgvs": "NP_009199.1:n.*379C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1379,
          "referenceAllele": "C",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "NM_001100431.2:c.*379C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001093901.1:n.*379C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1719,
          "referenceAllele": "C",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "NM_001184831.2:c.*953C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171760.1:n.*953C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679015"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1327,
          "referenceAllele": "C",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "NM_001257403.2:c.*201C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244332.1:n.*201C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017032",
      "geneNCBI_id": 11326,
      "geneSymbol": "VSIG4",
      "hgvs": [
        "NM_001184830.2:c.*953C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171759.1:n.*953C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713623"
    }
  ],
  "type": "nucleotide"
}