{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2469045",
  "communityStandardTitle": [
    "NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=734249[alleleid]",
        "alleleId": 734249,
        "preferredName": "NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/723119",
        "RCV": [
          "RCV000896833",
          "RCV002502624"
        ],
        "variationId": 723119
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-58129322-A-T",
        "id": "3-58129322-A-T",
        "variant": "3:58129322 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.58129322A>T?assembly=hg19",
        "id": "chr3:g.58129322A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.58143595A>T?assembly=hg38",
        "id": "chr3:g.58143595A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200677473",
        "rs": 200677473
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-58129322-A-T?dataset=gnomad_r2_1",
        "id": "3-58129322-A-T",
        "variant": "3:58129322 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-58143595-A-T?dataset=gnomad_r3",
        "id": "3-58143595-A-T",
        "variant": "3:58143595 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-58143595-A-T?dataset=gnomad_r4",
        "id": "3-58143595-A-T",
        "variant": "3:58143595 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 58143595,
          "referenceAllele": "A",
          "start": 58143594
        }
      ],
      "hgvs": [
        "NC_000003.12:g.58143595A>T",
        "CM000665.2:g.58143595A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 58129322,
          "referenceAllele": "A",
          "start": 58129321
        }
      ],
      "hgvs": [
        "NC_000003.11:g.58129322A>T",
        "CM000665.1:g.58129322A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 58104362,
          "referenceAllele": "A",
          "start": 58104361
        }
      ],
      "hgvs": [
        "NC_000003.10:g.58104362A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 140196,
          "referenceAllele": "A",
          "start": 140195
        }
      ],
      "hgvs": [
        "NG_012801.1:g.140196A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002539"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 759,
          "referenceAllele": "A",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000682297.1:n.759A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5448,
          "endIntronDirection": "+",
          "endIntronOffset": 843,
          "referenceAllele": "A",
          "start": 5448,
          "startIntronDirection": "+",
          "startIntronOffset": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000682871.1:c.5305+843A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507805.1:n.5305+843A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1718,
          "referenceAllele": "A",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000684439.1:n.1718A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5669,
          "referenceAllele": "A",
          "start": 5668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000684506.1:c.*3960A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507728.1:n.*3960A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5571,
          "referenceAllele": "A",
          "start": 5570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000684607.1:c.5428A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508224.1:p.Met1810Leu",
        "hgvsWellDefined": "ENSP00000508224.1:p.Met1810Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5550,
          "referenceAllele": "A",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000295956.9:c.5407A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295956.5:p.Met1803Leu",
        "hgvsWellDefined": "ENSP00000295956.5:p.Met1803Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295956.9:c.5407A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001457.4:c.5407A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295956.5:p.Met1803Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001448.2:p.Met1803Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5572,
          "referenceAllele": "A",
          "start": 5571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000295956.8:c.5407A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295956.4:p.Met1803Leu",
        "hgvsWellDefined": "ENSP00000295956.4:p.Met1803Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5500,
          "referenceAllele": "A",
          "start": 5499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000358537.7:c.5335A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351339.3:p.Met1779Leu",
        "hgvsWellDefined": "ENSP00000351339.3:p.Met1779Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5539,
          "referenceAllele": "A",
          "start": 5538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000429972.6:c.5374A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415599.2:p.Met1792Leu",
        "hgvsWellDefined": "ENSP00000415599.2:p.Met1792Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "A",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000481470.5:n.1675A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5665,
          "referenceAllele": "A",
          "start": 5664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000490882.5:c.5500A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420213.1:p.Met1834Leu",
        "hgvsWellDefined": "ENSP00000420213.1:p.Met1834Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4985,
          "referenceAllele": "A",
          "start": 4984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "ENST00000493452.5:c.4828A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418510.1:p.Met1610Leu",
        "hgvsWellDefined": "ENSP00000418510.1:p.Met1610Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988273",
      "coordinates": [
        {
          "allele": "T",
          "end": 5665,
          "referenceAllele": "A",
          "start": 5664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164317.1:c.5500A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157789.1:p.Met1834Leu",
        "hgvsWellDefined": "NP_001157789.1:p.Met1834Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014497"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825975469",
      "coordinates": [
        {
          "allele": "T",
          "end": 5539,
          "referenceAllele": "A",
          "start": 5538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164318.1:c.5374A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157790.1:p.Met1792Leu",
        "hgvsWellDefined": "NP_001157790.1:p.Met1792Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825976952",
      "coordinates": [
        {
          "allele": "T",
          "end": 5500,
          "referenceAllele": "A",
          "start": 5499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164319.1:c.5335A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157791.1:p.Met1779Leu",
        "hgvsWellDefined": "NP_001157791.1:p.Met1779Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829330330",
      "coordinates": [
        {
          "allele": "T",
          "end": 5572,
          "referenceAllele": "A",
          "start": 5571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001457.3:c.5407A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001448.2:p.Met1803Leu",
        "hgvsWellDefined": "NP_001448.2:p.Met1803Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5612,
          "referenceAllele": "A",
          "start": 5611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XM_005264977.1:c.5467A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265034.1:p.Met1823Leu",
        "hgvsWellDefined": "XP_005265034.1:p.Met1823Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5573,
          "referenceAllele": "A",
          "start": 5572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XM_005264978.1:c.5428A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265035.1:p.Met1810Leu",
        "hgvsWellDefined": "XP_005265035.1:p.Met1810Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5645,
          "referenceAllele": "A",
          "start": 5644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XM_005264981.1:c.5500A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265038.1:p.Met1834Leu",
        "hgvsWellDefined": "XP_005265038.1:p.Met1834Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5645,
          "referenceAllele": "A",
          "start": 5644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XR_940396.1:n.5645A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5573,
          "referenceAllele": "A",
          "start": 5572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XM_005264978.2:c.5428A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265035.1:p.Met1810Leu",
        "hgvsWellDefined": "XP_005265035.1:p.Met1810Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5645,
          "referenceAllele": "A",
          "start": 5644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XR_001740065.1:n.5645A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5645,
          "referenceAllele": "A",
          "start": 5644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "XR_940396.2:n.5645A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915988273",
      "coordinates": [
        {
          "allele": "T",
          "end": 5643,
          "referenceAllele": "A",
          "start": 5642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164317.2:c.5500A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157789.1:p.Met1834Leu",
        "hgvsWellDefined": "NP_001157789.1:p.Met1834Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825975469",
      "coordinates": [
        {
          "allele": "T",
          "end": 5517,
          "referenceAllele": "A",
          "start": 5516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164318.2:c.5374A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157790.1:p.Met1792Leu",
        "hgvsWellDefined": "NP_001157790.1:p.Met1792Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825976952",
      "coordinates": [
        {
          "allele": "T",
          "end": 5478,
          "referenceAllele": "A",
          "start": 5477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001164319.2:c.5335A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157791.1:p.Met1779Leu",
        "hgvsWellDefined": "NP_001157791.1:p.Met1779Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829330330",
      "coordinates": [
        {
          "allele": "T",
          "end": 5550,
          "referenceAllele": "A",
          "start": 5549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003755",
      "geneNCBI_id": 2317,
      "geneSymbol": "FLNB",
      "hgvs": [
        "NM_001457.4:c.5407A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001448.2:p.Met1803Leu",
        "hgvsWellDefined": "NP_001448.2:p.Met1803Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295956.9:c.5407A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001457.4:c.5407A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295956.5:p.Met1803Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001448.2:p.Met1803Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}