{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10648691",
  "communityStandardTitle": [
    "NM_144997.7(FLCN):c.*695C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=343554[alleleid]",
        "alleleId": 343554,
        "preferredName": "NM_144997.7(FLCN):c.*695C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/322046",
        "RCV": [
          "RCV000343208",
          "RCV000398097",
          "RCV003418015"
        ],
        "variationId": 322046
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17116274G>A?assembly=hg19",
        "id": "chr17:g.17116274G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17212960G>A?assembly=hg38",
        "id": "chr17:g.17212960G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775700421",
        "rs": 775700421
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17116274-G-A?dataset=gnomad_r2_1",
        "id": "17-17116274-G-A",
        "variant": "17:17116274 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17212960-G-A?dataset=gnomad_r3",
        "id": "17-17212960-G-A",
        "variant": "17:17212960 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17212960-G-A?dataset=gnomad_r4",
        "id": "17-17212960-G-A",
        "variant": "17:17212960 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 17212960,
          "referenceAllele": "G",
          "start": 17212959
        }
      ],
      "hgvs": [
        "NC_000017.11:g.17212960G>A",
        "CM000679.2:g.17212960G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 17116274,
          "referenceAllele": "G",
          "start": 17116273
        }
      ],
      "hgvs": [
        "NC_000017.10:g.17116274G>A",
        "CM000679.1:g.17116274G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 17056999,
          "referenceAllele": "G",
          "start": 17056998
        }
      ],
      "hgvs": [
        "NC_000017.9:g.17056999G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29229,
          "referenceAllele": "C",
          "start": 29228
        }
      ],
      "hgvs": [
        "NG_008001.2:g.29229C>T",
        "LRG_325:g.29229C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000765"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2919,
          "referenceAllele": "C",
          "start": 2918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.9:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.*695C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.*695C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:n.*695C>T"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:n.*695C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2890,
          "referenceAllele": "C",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.8:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253278"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1161,
          "endIntronDirection": "+",
          "endIntronOffset": 2025,
          "referenceAllele": "C",
          "start": 1161,
          "startIntronDirection": "+",
          "startIntronOffset": 2024
        }
      ],
      "hgvs": [
        "ENST00000427497.3:c.*372+2025C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394249.3:n.*372+2025C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "endIntronDirection": "-",
          "endIntronOffset": 4529,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "-",
          "startIntronOffset": 4530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030321",
      "geneNCBI_id": 23164,
      "geneSymbol": "MPRIP",
      "hgvs": [
        "ENST00000578209.5:c.562-4530G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2939,
          "referenceAllele": "C",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.5:c.*695C>T",
        "LRG_325t1:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2993,
          "referenceAllele": "C",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.1:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090847"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3737,
          "referenceAllele": "C",
          "start": 3736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523715.1:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522017.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090848"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3368,
          "referenceAllele": "C",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523716.1:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522018.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090849"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3653,
          "referenceAllele": "C",
          "start": 3652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523717.1:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522019.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2904,
          "referenceAllele": "C",
          "start": 2903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.1:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2932,
          "endIntronDirection": "+",
          "endIntronOffset": 2025,
          "referenceAllele": "C",
          "start": 2932,
          "startIntronDirection": "+",
          "startIntronOffset": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.1:c.1592+2025C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:n.1592+2025C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3553,
          "referenceAllele": "C",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523720.1:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522022.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2732,
          "referenceAllele": "C",
          "start": 2731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.1:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3204,
          "referenceAllele": "C",
          "start": 3203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.1:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3225,
          "referenceAllele": "C",
          "start": 3224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.1:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3141,
          "referenceAllele": "C",
          "start": 3140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.1:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2942,
          "referenceAllele": "C",
          "start": 2941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.6:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2096,
          "endIntronDirection": "+",
          "endIntronOffset": 2025,
          "referenceAllele": "C",
          "start": 2096,
          "startIntronDirection": "+",
          "startIntronOffset": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.3:c.1592+2025C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:n.1592+2025C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2717,
          "referenceAllele": "C",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024309.2:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879798.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2919,
          "referenceAllele": "C",
          "start": 2918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.7:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.*695C>T"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.*695C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:n.*695C>T"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:n.*695C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.2:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3202,
          "referenceAllele": "C",
          "start": 3201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3118,
          "referenceAllele": "C",
          "start": 3117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.*695C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:n.*695C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    }
  ],
  "type": "nucleotide"
}