{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA59810250",
  "communityStandardTitle": [
    "NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=449072[alleleid]",
        "alleleId": 449072,
        "preferredName": "NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471123",
        "RCV": [
          "RCV000540930",
          "RCV001128930",
          "RCV001128932",
          "RCV001128931"
        ],
        "variationId": 471123
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.167085264T>C?assembly=hg19",
        "id": "chr2:g.167085264T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166228754T>C?assembly=hg38",
        "id": "chr2:g.166228754T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200610689",
        "rs": 200610689
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-167085264-T-C?dataset=gnomad_r2_1",
        "id": "2-167085264-T-C",
        "variant": "2:167085264 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-166228754-T-C?dataset=gnomad_r4",
        "id": "2-166228754-T-C",
        "variant": "2:166228754 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166228754,
          "referenceAllele": "T",
          "start": 166228753
        }
      ],
      "hgvs": [
        "NC_000002.12:g.166228754T>C",
        "CM000664.2:g.166228754T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 167085264,
          "referenceAllele": "T",
          "start": 167085263
        }
      ],
      "hgvs": [
        "NC_000002.11:g.167085264T>C",
        "CM000664.1:g.167085264T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166793510,
          "referenceAllele": "T",
          "start": 166793509
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166793510T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 152234,
          "referenceAllele": "A",
          "start": 152233
        }
      ],
      "hgvs": [
        "NG_012798.1:g.152234A>G",
        "LRG_369:g.152234A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002537"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4391,
          "referenceAllele": "A",
          "start": 4390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000303354.11:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304748.7:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4143,
          "referenceAllele": "A",
          "start": 4142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409435.6:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386330.2:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4441,
          "referenceAllele": "A",
          "start": 4440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000642356.2:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495601.1:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642356.2:c.4143A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001365536.1:c.4143A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495601.1:p.Arg1381="
          },
          "RefSeq": {
            "hgvs": "NP_001352465.1:p.Arg1381="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3987,
          "referenceAllele": "A",
          "start": 3986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000644316.1:c.3987A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493939.1:p.Arg1329="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4358,
          "referenceAllele": "A",
          "start": 4357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000645907.1:c.4110A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495983.1:p.Arg1370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4484,
          "referenceAllele": "A",
          "start": 4483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000303354.10:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304748.7:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4143,
          "referenceAllele": "A",
          "start": 4142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409435.5:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386330.1:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4457,
          "referenceAllele": "A",
          "start": 4456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "ENST00000409672.5:c.4110A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386306.1:p.Arg1370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066591489",
      "coordinates": [
        {
          "allele": "G",
          "end": 4451,
          "referenceAllele": "A",
          "start": 4450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "NM_002977.3:c.4110A>G",
        "LRG_369t1:c.4110A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002968.1:p.Arg1370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 19440,
          "referenceAllele": "T",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 19441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054069",
      "geneNCBI_id": 101929680,
      "geneSymbol": "SCN1A-AS1",
      "hgvs": [
        "NR_110260.1:n.612-19441T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4457,
          "referenceAllele": "A",
          "start": 4456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_005246757.1:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246814.1:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4405,
          "referenceAllele": "A",
          "start": 4404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511616.1:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509918.1:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4457,
          "referenceAllele": "A",
          "start": 4456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511617.1:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509919.1:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4424,
          "referenceAllele": "A",
          "start": 4423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511618.1:c.4110A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509920.1:p.Arg1370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4457,
          "referenceAllele": "A",
          "start": 4456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511619.1:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509921.1:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828180793",
      "coordinates": [
        {
          "allele": "G",
          "end": 4441,
          "referenceAllele": "A",
          "start": 4440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "NM_001365536.1:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352465.1:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524144",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642356.2:c.4143A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001365536.1:c.4143A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495601.1:p.Arg1381="
          },
          "RefSeq": {
            "hgvs": "NP_001352465.1:p.Arg1381="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4419,
          "referenceAllele": "A",
          "start": 4418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511616.3:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509918.1:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4457,
          "referenceAllele": "A",
          "start": 4456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511617.2:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509919.1:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4424,
          "referenceAllele": "A",
          "start": 4423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511618.2:c.4110A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509920.1:p.Arg1370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4457,
          "referenceAllele": "A",
          "start": 4456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_011511619.2:c.4143A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509921.1:p.Arg1381="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3986,
          "referenceAllele": "A",
          "start": 3985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_017004668.1:c.3756A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860157.1:p.Arg1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3544,
          "referenceAllele": "A",
          "start": 3543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010597",
      "geneNCBI_id": 6335,
      "geneSymbol": "SCN9A",
      "hgvs": [
        "XM_017004669.1:c.3399A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860158.1:p.Arg1133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560119"
    }
  ],
  "type": "nucleotide"
}