{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4474187",
  "communityStandardTitle": [
    "NM_001458.5(FLNC):c.970-5A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=522876[alleleid]",
        "alleleId": 522876,
        "preferredName": "NM_001458.5(FLNC):c.970-5A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/539519",
        "RCV": [
          "RCV000649267",
          "RCV001592808",
          "RCV002369737"
        ],
        "variationId": 539519
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-128478036-A-G",
        "id": "7-128478036-A-G",
        "variant": "7:128478036 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.128478036A>G?assembly=hg19",
        "id": "chr7:g.128478036A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.128837982A>G?assembly=hg38",
        "id": "chr7:g.128837982A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199755800",
        "rs": 199755800
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-128478036-A-G?dataset=gnomad_r2_1",
        "id": "7-128478036-A-G",
        "variant": "7:128478036 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-128837982-A-G?dataset=gnomad_r3",
        "id": "7-128837982-A-G",
        "variant": "7:128837982 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-128837982-A-G?dataset=gnomad_r4",
        "id": "7-128837982-A-G",
        "variant": "7:128837982 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 128837982,
          "referenceAllele": "A",
          "start": 128837981
        }
      ],
      "hgvs": [
        "NC_000007.14:g.128837982A>G",
        "CM000669.2:g.128837982A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 128478036,
          "referenceAllele": "A",
          "start": 128478035
        }
      ],
      "hgvs": [
        "NC_000007.13:g.128478036A>G",
        "CM000669.1:g.128478036A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 128265272,
          "referenceAllele": "A",
          "start": 128265271
        }
      ],
      "hgvs": [
        "NC_000007.12:g.128265272A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12554,
          "referenceAllele": "A",
          "start": 12553
        }
      ],
      "hgvs": [
        "NG_011807.1:g.12554A>G",
        "LRG_870:g.12554A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001990"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1201,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1201,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "ENST00000325888.13:c.970-5A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327145.8:n.970-5A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325888.13:c.970-5A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001458.5:c.970-5A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327145.8:n.970-5A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001449.3:n.970-5A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1230,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1230,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "ENST00000325888.12:c.970-5A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327145.8:n.970-5A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258535"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1181,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "ENST00000346177.6:c.970-5A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344002.6:n.970-5A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1178,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "NM_001127487.1:c.970-5A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120959.1:n.970-5A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011625"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1178,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1178,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "NM_001458.4:c.970-5A>G",
        "LRG_870t1:c.970-5A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001449.3:n.970-5A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1201,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1201,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "NM_001127487.2:c.970-5A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120959.1:n.970-5A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1201,
          "endIntronDirection": "-",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 1201,
          "startIntronDirection": "-",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "NM_001458.5:c.970-5A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001449.3:n.970-5A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325888.13:c.970-5A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001458.5:c.970-5A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327145.8:n.970-5A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001449.3:n.970-5A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}