{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340545",
  "communityStandardTitle": [
    "NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5860483",
        "active": true,
        "id": "COSM5860483"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5860484",
        "active": true,
        "id": "COSM5860484"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21389[alleleid]",
        "alleleId": 21389,
        "preferredName": "NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6350",
        "RCV": [
          "RCV000006722",
          "RCV001004018",
          "RCV001067998",
          "RCV001270748",
          "RCV001781194"
        ],
        "variationId": 6350
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.167133791A>G?assembly=hg19",
        "id": "chr2:g.167133791A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166277281A>G?assembly=hg38",
        "id": "chr2:g.166277281A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356474",
        "rs": 80356474
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166277281,
          "referenceAllele": "A",
          "start": 166277280
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166277281A>G",
        "CM000664.2:g.166277281A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 167133791,
          "referenceAllele": "A",
          "start": 167133790
        }
      ],
      "hgvs": [
        "NC_000002.11:g.167133791A>G",
        "CM000664.1:g.167133791A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 166842037,
          "referenceAllele": "A",
          "start": 166842036
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166842037A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 103707,
          "referenceAllele": "T",
          "start": 103706
        }
      ],
      "hgvs": [
        "NG_012798.1:g.103707T>C",
        "LRG_369:g.103707T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002537"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2824,
          "referenceAllele": "T",
          "start": 2823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000303354.11:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304748.7:p.Ile859Thr",
        "hgvsWellDefined": "ENSP00000304748.7:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2576,
          "referenceAllele": "T",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409435.6:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386330.2:p.Ile859Thr",
        "hgvsWellDefined": "ENSP00000386330.2:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2874,
          "referenceAllele": "T",
          "start": 2873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000642356.2:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495601.1:p.Ile859Thr",
        "hgvsWellDefined": "ENSP00000495601.1:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642356.2:c.2576T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001365536.1:c.2576T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495601.1:p.Ile859Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001352465.1:p.Ile859Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2543,
          "referenceAllele": "T",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000644316.1:c.2543T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493939.1:p.Ile848Thr",
        "hgvsWellDefined": "ENSP00000493939.1:p.Ile848Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767756"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 233,
          "referenceAllele": "T",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000645283.1:c.233T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496086.1:p.Ile78Thr",
        "hgvsWellDefined": "ENSP00000496086.1:p.Ile78Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2791,
          "referenceAllele": "T",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000645907.1:c.2543T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495983.1:p.Ile848Thr",
        "hgvsWellDefined": "ENSP00000495983.1:p.Ile848Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1578,
          "referenceAllele": "T",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000667201.2:c.1578T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772970"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2917,
          "referenceAllele": "T",
          "start": 2916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000303354.10:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304748.7:p.Ile859Thr",
        "hgvsWellDefined": "ENSP00000304748.7:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255307"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2576,
          "referenceAllele": "T",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409435.5:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386330.1:p.Ile859Thr",
        "hgvsWellDefined": "ENSP00000386330.1:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2890,
          "referenceAllele": "T",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409672.5:c.2543T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386306.1:p.Ile848Thr",
        "hgvsWellDefined": "ENSP00000386306.1:p.Ile848Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340547",
      "coordinates": [
        {
          "allele": "C",
          "end": 2884,
          "referenceAllele": "T",
          "start": 2883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "NM_002977.3:c.2543T>C",
        "LRG_369t1:c.2543T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002968.1:p.Ile848Thr",
        "hgvsWellDefined": "NP_002968.1:p.Ile848Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 1029,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054069",
      "geneNCBI_id": 101929680,
      "geneSymbol": "SCN1A-AS1",
      "hgvs": [
        "NR_110260.1:n.1029+34A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2890,
          "referenceAllele": "T",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_005246757.1:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246814.1:p.Ile859Thr",
        "hgvsWellDefined": "XP_005246814.1:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2838,
          "referenceAllele": "T",
          "start": 2837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511616.1:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509918.1:p.Ile859Thr",
        "hgvsWellDefined": "XP_011509918.1:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2890,
          "referenceAllele": "T",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511617.1:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509919.1:p.Ile859Thr",
        "hgvsWellDefined": "XP_011509919.1:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2857,
          "referenceAllele": "T",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511618.1:c.2543T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509920.1:p.Ile848Thr",
        "hgvsWellDefined": "XP_011509920.1:p.Ile848Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2890,
          "referenceAllele": "T",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511619.1:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509921.1:p.Ile859Thr",
        "hgvsWellDefined": "XP_011509921.1:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916045300",
      "coordinates": [
        {
          "allele": "C",
          "end": 2874,
          "referenceAllele": "T",
          "start": 2873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "NM_001365536.1:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352465.1:p.Ile859Thr",
        "hgvsWellDefined": "NP_001352465.1:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642356.2:c.2576T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001365536.1:c.2576T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495601.1:p.Ile859Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001352465.1:p.Ile859Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2852,
          "referenceAllele": "T",
          "start": 2851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511616.3:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509918.1:p.Ile859Thr",
        "hgvsWellDefined": "XP_011509918.1:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2890,
          "referenceAllele": "T",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511617.2:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509919.1:p.Ile859Thr",
        "hgvsWellDefined": "XP_011509919.1:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2857,
          "referenceAllele": "T",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511618.2:c.2543T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509920.1:p.Ile848Thr",
        "hgvsWellDefined": "XP_011509920.1:p.Ile848Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2890,
          "referenceAllele": "T",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511619.2:c.2576T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509921.1:p.Ile859Thr",
        "hgvsWellDefined": "XP_011509921.1:p.Ile859Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542215"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2419,
          "referenceAllele": "T",
          "start": 2418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_017004668.1:c.2189T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860157.1:p.Ile730Thr",
        "hgvsWellDefined": "XP_016860157.1:p.Ile730Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1977,
          "referenceAllele": "T",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_017004669.1:c.1832T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860158.1:p.Ile611Thr",
        "hgvsWellDefined": "XP_016860158.1:p.Ile611Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2890,
          "referenceAllele": "T",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XR_001738886.1:n.2890T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589322"
    }
  ],
  "type": "nucleotide"
}