{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA842984",
  "communityStandardTitle": [
    "NM_012186.3(FOXE3):c.498C>A (p.Arg166=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1809343[alleleid]",
        "alleleId": 1809343,
        "preferredName": "NM_012186.3(FOXE3):c.498C>A (p.Arg166=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1744562",
        "RCV": [
          "RCV002342925",
          "RCV003776008"
        ],
        "variationId": 1744562
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-47882485-C-A",
        "id": "1-47882485-C-A",
        "variant": "1:47882485 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.47882485C>A?assembly=hg19",
        "id": "chr1:g.47882485C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.47416813C>A?assembly=hg38",
        "id": "chr1:g.47416813C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/747040897",
        "rs": 747040897
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-47882485-C-A?dataset=gnomad_r2_1",
        "id": "1-47882485-C-A",
        "variant": "1:47882485 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-47416813-C-A?dataset=gnomad_r4",
        "id": "1-47416813-C-A",
        "variant": "1:47416813 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 47416813,
          "referenceAllele": "C",
          "start": 47416812
        }
      ],
      "hgvs": [
        "NC_000001.11:g.47416813C>A",
        "CM000663.2:g.47416813C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 47882485,
          "referenceAllele": "C",
          "start": 47882484
        }
      ],
      "hgvs": [
        "NC_000001.10:g.47882485C>A",
        "CM000663.1:g.47882485C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 47655072,
          "referenceAllele": "C",
          "start": 47655071
        }
      ],
      "hgvs": [
        "NC_000001.9:g.47655072C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5742,
          "referenceAllele": "C",
          "start": 5741
        }
      ],
      "hgvs": [
        "NG_016192.1:g.5742C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002998"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003808",
      "geneNCBI_id": 2301,
      "geneSymbol": "FOXE3",
      "hgvs": [
        "ENST00000335071.4:c.498C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334472.2:p.Arg166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747467",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335071.4:c.498C>A"
          },
          "RefSeq": {
            "hgvs": "NM_012186.3:c.498C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334472.2:p.Arg166="
          },
          "RefSeq": {
            "hgvs": "NP_036318.1:p.Arg166="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003808",
      "geneNCBI_id": 2301,
      "geneSymbol": "FOXE3",
      "hgvs": [
        "ENST00000335071.3:c.498C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334472.2:p.Arg166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829724140",
      "coordinates": [
        {
          "allele": "A",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003808",
      "geneNCBI_id": 2301,
      "geneSymbol": "FOXE3",
      "hgvs": [
        "NM_012186.2:c.498C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036318.1:p.Arg166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28,
          "endIntronDirection": "-",
          "endIntronOffset": 6911,
          "referenceAllele": "G",
          "start": 28,
          "startIntronDirection": "-",
          "startIntronOffset": 6912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN050661",
      "geneNCBI_id": 102724077,
      "geneSymbol": "LINC01389",
      "hgvs": [
        "NR_126355.1:n.29-6912G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS056199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829724140",
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003808",
      "geneNCBI_id": 2301,
      "geneSymbol": "FOXE3",
      "hgvs": [
        "NM_012186.3:c.498C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036318.1:p.Arg166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667933",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000335071.4:c.498C>A"
          },
          "RefSeq": {
            "hgvs": "NM_012186.3:c.498C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000334472.2:p.Arg166="
          },
          "RefSeq": {
            "hgvs": "NP_036318.1:p.Arg166="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}