{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4474367",
  "communityStandardTitle": [
    "NM_001458.5(FLNC):c.1518C>T (p.Ser506=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=457211[alleleid]",
        "alleleId": 457211,
        "preferredName": "NM_001458.5(FLNC):c.1518C>T (p.Ser506=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471979",
        "RCV": [
          "RCV000539725",
          "RCV002395438"
        ],
        "variationId": 471979
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-128480183-C-T",
        "id": "7-128480183-C-T",
        "variant": "7:128480183 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.128480183C>T?assembly=hg19",
        "id": "chr7:g.128480183C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.128840129C>T?assembly=hg38",
        "id": "chr7:g.128840129C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368101036",
        "rs": 368101036
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-128480183-C-T?dataset=gnomad_r2_1",
        "id": "7-128480183-C-T",
        "variant": "7:128480183 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-128840129-C-T?dataset=gnomad_r3",
        "id": "7-128840129-C-T",
        "variant": "7:128840129 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-128840129-C-T?dataset=gnomad_r4",
        "id": "7-128840129-C-T",
        "variant": "7:128840129 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 128840129,
          "referenceAllele": "C",
          "start": 128840128
        }
      ],
      "hgvs": [
        "NC_000007.14:g.128840129C>T",
        "CM000669.2:g.128840129C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 128480183,
          "referenceAllele": "C",
          "start": 128480182
        }
      ],
      "hgvs": [
        "NC_000007.13:g.128480183C>T",
        "CM000669.1:g.128480183C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 128267419,
          "referenceAllele": "C",
          "start": 128267418
        }
      ],
      "hgvs": [
        "NC_000007.12:g.128267419C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14701,
          "referenceAllele": "C",
          "start": 14700
        }
      ],
      "hgvs": [
        "NG_011807.1:g.14701C>T",
        "LRG_870:g.14701C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001990"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "ENST00000325888.13:c.1518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327145.8:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325888.13:c.1518C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001458.5:c.1518C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327145.8:p.Ser506="
          },
          "RefSeq": {
            "hgvs": "NP_001449.3:p.Ser506="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1779,
          "referenceAllele": "C",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "ENST00000325888.12:c.1518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327145.8:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "ENST00000346177.6:c.1518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344002.6:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825610910",
      "coordinates": [
        {
          "allele": "T",
          "end": 1727,
          "referenceAllele": "C",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "NM_001127487.1:c.1518C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120959.1:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011625"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332144",
      "coordinates": [
        {
          "allele": "T",
          "end": 1727,
          "referenceAllele": "C",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "NM_001458.4:c.1518C>T",
        "LRG_870t1:c.1518C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001449.3:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825610910",
      "coordinates": [
        {
          "allele": "T",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "NM_001127487.2:c.1518C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120959.1:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676897"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829332144",
      "coordinates": [
        {
          "allele": "T",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003756",
      "geneNCBI_id": 2318,
      "geneSymbol": "FLNC",
      "hgvs": [
        "NM_001458.5:c.1518C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001449.3:p.Ser506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325888.13:c.1518C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001458.5:c.1518C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327145.8:p.Ser506="
          },
          "RefSeq": {
            "hgvs": "NP_001449.3:p.Ser506="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}