{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2427987828",
  "communityStandardTitle": [
    "NM_001145252.3(CFP):c.1284C= (p.Asn428=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1048118",
        "rs": 1048118
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 47624401,
          "referenceAllele": "G",
          "start": 47624400
        }
      ],
      "hgvs": [
        "NC_000023.11:g.47624401G=",
        "CM000685.2:g.47624401G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 47483800,
          "referenceAllele": "G",
          "start": 47483799
        }
      ],
      "hgvs": [
        "NC_000023.10:g.47483800G=",
        "CM000685.1:g.47483800G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 47368744,
          "referenceAllele": "G",
          "start": 47368743
        }
      ],
      "hgvs": [
        "NC_000023.9:g.47368744G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "hgvs": [
        "NG_008437.1:g.457C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10905,
          "referenceAllele": "C",
          "start": 10904
        }
      ],
      "hgvs": [
        "NG_009893.1:g.10905C=",
        "LRG_129:g.10905C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001688"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008864",
      "geneNCBI_id": 5199,
      "geneSymbol": "CFP",
      "hgvs": [
        "ENST00000396992.8:c.1284C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380189.3:p.Asn428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753586",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396992.8:c.1284C="
          },
          "RefSeq": {
            "hgvs": "NM_001145252.3:c.1284C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380189.3:p.Asn428="
          },
          "RefSeq": {
            "hgvs": "NP_001138724.1:p.Asn428="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1522,
          "referenceAllele": "C",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008864",
      "geneNCBI_id": 5199,
      "geneSymbol": "CFP",
      "hgvs": [
        "ENST00000640573.1:n.1522C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "C",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008864",
      "geneNCBI_id": 5199,
      "geneSymbol": "CFP",
      "hgvs": [
        "ENST00000247153.7:c.1284C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247153.3:p.Asn428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008864",
      "geneNCBI_id": 5199,
      "geneSymbol": "CFP",
      "hgvs": [
        "ENST00000396992.7:c.1284C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380189.3:p.Asn428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 405,
          "referenceAllele": "C",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008864",
      "geneNCBI_id": 5199,
      "geneSymbol": "CFP",
      "hgvs": [
        "ENST00000478222.1:n.405C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318873"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825883895",
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "referenceAllele": "C",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008864",
      "geneNCBI_id": 5199,
      "geneSymbol": "CFP",
      "hgvs": [
        "NM_001145252.1:c.1284C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138724.1:p.Asn428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829386233",
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "C",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008864",
      "geneNCBI_id": 5199,
      "geneSymbol": "CFP",
      "hgvs": [
        "NM_002621.2:c.1284C=",
        "LRG_129t1:c.1284C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002612.1:p.Asn428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027921"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008864",
      "geneNCBI_id": 5199,
      "geneSymbol": "CFP",
      "hgvs": [
        "XM_017029575.1:c.879C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016885064.1:p.Asn293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825883895",
      "coordinates": [
        {
          "allele": "C",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008864",
      "geneNCBI_id": 5199,
      "geneSymbol": "CFP",
      "hgvs": [
        "NM_001145252.3:c.1284C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001138724.1:p.Asn428="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396992.8:c.1284C="
          },
          "RefSeq": {
            "hgvs": "NM_001145252.3:c.1284C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380189.3:p.Asn428="
          },
          "RefSeq": {
            "hgvs": "NP_001138724.1:p.Asn428="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}