{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10648695",
  "communityStandardTitle": [
    "NM_144997.7(FLCN):c.*379G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=343559[alleleid]",
        "alleleId": 343559,
        "preferredName": "NM_144997.7(FLCN):c.*379G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/322054",
        "RCV": [
          "RCV000286267",
          "RCV000341273"
        ],
        "variationId": 322054
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17116590C>T?assembly=hg19",
        "id": "chr17:g.17116590C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.17213276C>T?assembly=hg38",
        "id": "chr17:g.17213276C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/117436649",
        "rs": 117436649
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17116590-C-T?dataset=gnomad_r2_1",
        "id": "17-17116590-C-T",
        "variant": "17:17116590 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17213276-C-T?dataset=gnomad_r3",
        "id": "17-17213276-C-T",
        "variant": "17:17213276 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-17213276-C-T?dataset=gnomad_r4",
        "id": "17-17213276-C-T",
        "variant": "17:17213276 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 17213276,
          "referenceAllele": "C",
          "start": 17213275
        }
      ],
      "hgvs": [
        "NC_000017.11:g.17213276C>T",
        "CM000679.2:g.17213276C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 17116590,
          "referenceAllele": "C",
          "start": 17116589
        }
      ],
      "hgvs": [
        "NC_000017.10:g.17116590C>T",
        "CM000679.1:g.17116590C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 17057315,
          "referenceAllele": "C",
          "start": 17057314
        }
      ],
      "hgvs": [
        "NC_000017.9:g.17057315C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28913,
          "referenceAllele": "G",
          "start": 28912
        }
      ],
      "hgvs": [
        "NG_008001.2:g.28913G>A",
        "LRG_325:g.28913G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000765"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2603,
          "referenceAllele": "G",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.9:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743795",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.*379G>A"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.*379G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:n.*379G>A"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:n.*379G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2574,
          "referenceAllele": "G",
          "start": 2573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "ENST00000285071.8:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000285071.4:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1161,
          "endIntronDirection": "+",
          "endIntronOffset": 1709,
          "referenceAllele": "G",
          "start": 1161,
          "startIntronDirection": "+",
          "startIntronOffset": 1708
        }
      ],
      "hgvs": [
        "ENST00000427497.3:c.*372+1709G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394249.3:n.*372+1709G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 561,
          "endIntronDirection": "-",
          "endIntronOffset": 4213,
          "referenceAllele": "C",
          "start": 561,
          "startIntronDirection": "-",
          "startIntronOffset": 4214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030321",
      "geneNCBI_id": 23164,
      "geneSymbol": "MPRIP",
      "hgvs": [
        "ENST00000578209.5:c.562-4214C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2623,
          "referenceAllele": "G",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.5:c.*379G>A",
        "LRG_325t1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2677,
          "referenceAllele": "G",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523714.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522016.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3421,
          "referenceAllele": "G",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523715.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522017.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090848"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3052,
          "referenceAllele": "G",
          "start": 3051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523716.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522018.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3337,
          "referenceAllele": "G",
          "start": 3336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523717.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522019.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2588,
          "referenceAllele": "G",
          "start": 2587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523718.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522020.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2932,
          "endIntronDirection": "+",
          "endIntronOffset": 1709,
          "referenceAllele": "G",
          "start": 2932,
          "startIntronDirection": "+",
          "startIntronOffset": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.1:c.1592+1709G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:n.1592+1709G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090852"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3237,
          "referenceAllele": "G",
          "start": 3236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523720.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522022.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090853"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2416,
          "referenceAllele": "G",
          "start": 2415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523721.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522023.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2888,
          "referenceAllele": "G",
          "start": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2909,
          "referenceAllele": "G",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2825,
          "referenceAllele": "G",
          "start": 2824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.1:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2626,
          "referenceAllele": "G",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.6:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526585"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2096,
          "endIntronDirection": "+",
          "endIntronOffset": 1709,
          "referenceAllele": "G",
          "start": 2096,
          "startIntronDirection": "+",
          "startIntronOffset": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_011523719.3:c.1592+1709G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522021.1:n.1592+1709G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2401,
          "referenceAllele": "G",
          "start": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "XM_017024309.2:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879798.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2603,
          "referenceAllele": "G",
          "start": 2602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.7:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_659434.2:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285071.9:c.*379G>A"
          },
          "RefSeq": {
            "hgvs": "NM_144997.7:c.*379G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285071.4:n.*379G>A"
          },
          "RefSeq": {
            "hgvs": "NP_659434.2:n.*379G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2865,
          "referenceAllele": "G",
          "start": 2864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.2:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2886,
          "referenceAllele": "G",
          "start": 2885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340159.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2802,
          "referenceAllele": "G",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.*379G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340160.1:n.*379G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    }
  ],
  "type": "nucleotide"
}