{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3164011",
  "communityStandardTitle": [
    "NM_000128.4(F11):c.1489C>T (p.Arg497Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264191[alleleid]",
        "alleleId": 264191,
        "preferredName": "NM_000128.4(F11):c.1489C>T (p.Arg497Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280137",
        "RCV": [
          "RCV000349831",
          "RCV000763125",
          "RCV001273725",
          "RCV003409399"
        ],
        "variationId": 280137
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-187207577-C-T",
        "id": "4-187207577-C-T",
        "variant": "4:187207577 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187207577C>T?assembly=hg19",
        "id": "chr4:g.187207577C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186286423C>T?assembly=hg38",
        "id": "chr4:g.186286423C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375422404",
        "rs": 375422404
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-187207577-C-T?dataset=gnomad_r2_1",
        "id": "4-187207577-C-T",
        "variant": "4:187207577 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-186286423-C-T?dataset=gnomad_r3",
        "id": "4-186286423-C-T",
        "variant": "4:186286423 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-186286423-C-T?dataset=gnomad_r4",
        "id": "4-186286423-C-T",
        "variant": "4:186286423 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 186286423,
          "referenceAllele": "C",
          "start": 186286422
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186286423C>T",
        "CM000666.2:g.186286423C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 187207577,
          "referenceAllele": "C",
          "start": 187207576
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187207577C>T",
        "CM000666.1:g.187207577C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 187444571,
          "referenceAllele": "C",
          "start": 187444570
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187444571C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 25460,
          "referenceAllele": "C",
          "start": 25459
        }
      ],
      "hgvs": [
        "NG_008051.1:g.25460C>T",
        "LRG_583:g.25460C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000807"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1597,
          "referenceAllele": "C",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.7:c.1489C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:p.Arg497Ter",
        "hgvsWellDefined": "ENSP00000384957.2:p.Arg497_Val625delinsProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754055",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.1489C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.1489C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:p.Arg497Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:p.Arg497Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "endIntronDirection": "+",
          "endIntronOffset": 610,
          "referenceAllele": "C",
          "start": 176,
          "startIntronDirection": "+",
          "startIntronOffset": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000264691.4:c.176+610C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS251561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1361,
          "referenceAllele": "C",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000264692.8:c.1327C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264692.5:p.Arg443Ter",
        "hgvsWellDefined": "ENSP00000264692.5:p.Arg443_Val571delinsProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.6:c.1489C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:p.Arg497Ter",
        "hgvsWellDefined": "ENSP00000384957.2:p.Arg497_Val625delinsProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279867"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645294919",
      "coordinates": [
        {
          "allele": "T",
          "end": 1822,
          "referenceAllele": "C",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.3:c.1489C>T",
        "LRG_583t1:c.1489C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:p.Arg497Ter",
        "hgvsWellDefined": "NP_000119.1:p.Arg497_Val625delinsProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1066,
          "endIntronDirection": "-",
          "endIntronOffset": 156,
          "referenceAllele": "G",
          "start": 1066,
          "startIntronDirection": "-",
          "startIntronOffset": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027725",
      "geneNCBI_id": 285441,
      "geneSymbol": "F11-AS1",
      "hgvs": [
        "NR_033900.1:n.1067-157G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1844,
          "referenceAllele": "C",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.2:c.1492C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:p.Arg498Ter",
        "hgvsWellDefined": "XP_005262878.1:p.Arg498_Val626delinsProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1835,
          "endIntronDirection": "+",
          "endIntronOffset": 610,
          "referenceAllele": "C",
          "start": 1835,
          "startIntronDirection": "+",
          "startIntronOffset": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.2:c.1483+610C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:n.1483+610C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1574,
          "referenceAllele": "C",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.2:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:p.Arg408Ter",
        "hgvsWellDefined": "XP_005262880.1:p.Arg408_Val536delinsProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1835,
          "endIntronDirection": "-",
          "endIntronOffset": 122,
          "referenceAllele": "C",
          "start": 1835,
          "startIntronDirection": "-",
          "startIntronOffset": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262824.1:c.1484-123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262881.1:n.1484-123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063583"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1796,
          "referenceAllele": "C",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.1:c.1444C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:p.Arg482Ter",
        "hgvsWellDefined": "XP_006714200.1:p.Arg482_Val610delinsProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1897,
          "referenceAllele": "C",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938706.1:n.1897C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1888,
          "endIntronDirection": "+",
          "endIntronOffset": 610,
          "referenceAllele": "C",
          "start": 1888,
          "startIntronDirection": "+",
          "startIntronOffset": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938707.1:n.1888+610C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1825,
          "referenceAllele": "C",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.4:c.1492C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:p.Arg498Ter",
        "hgvsWellDefined": "XP_005262878.1:p.Arg498_Val626delinsProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1816,
          "endIntronDirection": "+",
          "endIntronOffset": 610,
          "referenceAllele": "C",
          "start": 1816,
          "startIntronDirection": "+",
          "startIntronOffset": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.4:c.1483+610C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:n.1483+610C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "C",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.4:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:p.Arg408Ter",
        "hgvsWellDefined": "XP_005262880.1:p.Arg408_Val536delinsProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.3:c.1444C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:p.Arg482Ter",
        "hgvsWellDefined": "XP_006714200.1:p.Arg482_Val610delinsProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1963,
          "referenceAllele": "C",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_001741172.2:n.1963C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645294919",
      "coordinates": [
        {
          "allele": "T",
          "end": 1597,
          "referenceAllele": "C",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.4:c.1489C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:p.Arg497Ter",
        "hgvsWellDefined": "NP_000119.1:p.Arg497_Val625delinsProIleCysLeuProSerLysGlyAspArgAsnValIleTyrThrAspCysTrpValThrGlyTrpGlyTyrArgLysLeuArgAspLysIleGlnAsnThrLeuGlnLysAlaLysIleProLeuValThrAsnGluGluCysGlnLysArgTyrArgGlyHisLysIleThrHisLysMetIleCysAlaGlyTyrArgGluGlyGlyLysAspAlaCysLysGlyAspSerGlyGlyProLeuSerCysLysHisAsnGluValTrpHisLeuValGlyIleThrSerTrpGlyGluGlyCysAlaGlnArgGluArgProGlyValTyrThrAsnValValGluTyrValAspTrpIleLeuGluLysThrGlnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.1489C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.1489C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:p.Arg497Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:p.Arg497Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}