{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA389475653",
  "communityStandardTitle": [
    "NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=791398[alleleid]",
        "alleleId": 791398,
        "preferredName": "NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/803013",
        "RCV": [
          "RCV000989199"
        ],
        "variationId": 803013
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.29237173C>T?assembly=hg19",
        "id": "chr14:g.29237173C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.28767967C>T?assembly=hg38",
        "id": "chr14:g.28767967C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1594383704",
        "rs": 1594383704
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 28767967,
          "referenceAllele": "C",
          "start": 28767966
        }
      ],
      "hgvs": [
        "NC_000014.9:g.28767967C>T",
        "CM000676.2:g.28767967C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 29237173,
          "referenceAllele": "C",
          "start": 29237172
        }
      ],
      "hgvs": [
        "NC_000014.8:g.29237173C>T",
        "CM000676.1:g.29237173C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 28306924,
          "referenceAllele": "C",
          "start": 28306923
        }
      ],
      "hgvs": [
        "NC_000014.7:g.28306924C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5887,
          "referenceAllele": "C",
          "start": 5886
        }
      ],
      "hgvs": [
        "NG_009367.1:g.5887C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001575"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2363,
          "referenceAllele": "C",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "ENST00000706482.1:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516406.1:p.Arg230Cys",
        "hgvsWellDefined": "ENSP00000516406.1:p.Arg230Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "ENST00000313071.7:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339004.3:p.Arg230Cys",
        "hgvsWellDefined": "ENSP00000339004.3:p.Arg230Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313071.7:c.688C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005249.5:c.688C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339004.3:p.Arg230Cys"
          },
          "RefSeq": {
            "hgvs": "NP_005240.3:p.Arg230Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2580,
          "referenceAllele": "C",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "ENST00000313071.6:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339004.3:p.Arg230Cys",
        "hgvsWellDefined": "ENSP00000339004.3:p.Arg230Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992846",
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "NM_005249.4:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005240.3:p.Arg230Cys",
        "hgvsWellDefined": "NP_005240.3:p.Arg230Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915992846",
      "coordinates": [
        {
          "allele": "T",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003811",
      "geneNCBI_id": 2290,
      "geneSymbol": "FOXG1",
      "hgvs": [
        "NM_005249.5:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005240.3:p.Arg230Cys",
        "hgvsWellDefined": "NP_005240.3:p.Arg230Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313071.7:c.688C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005249.5:c.688C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339004.3:p.Arg230Cys"
          },
          "RefSeq": {
            "hgvs": "NP_005240.3:p.Arg230Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}