{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040940",
  "communityStandardTitle": [
    "NM_000128.4(F11):c.218+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357338[alleleid]",
        "alleleId": 357338,
        "preferredName": "NM_000128.4(F11):c.218+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370747",
        "RCV": [
          "RCV000409767",
          "RCV001861375"
        ],
        "variationId": 370747
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187192926G>A?assembly=hg19",
        "id": "chr4:g.187192926G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186271772G>A?assembly=hg38",
        "id": "chr4:g.186271772G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516738",
        "rs": 1057516738
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-187192926-G-A?dataset=gnomad_r2_1",
        "id": "4-187192926-G-A",
        "variant": "4:187192926 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-186271772-G-A?dataset=gnomad_r4",
        "id": "4-186271772-G-A",
        "variant": "4:186271772 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 186271772,
          "referenceAllele": "G",
          "start": 186271771
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186271772G>A",
        "CM000666.2:g.186271772G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187192926,
          "referenceAllele": "G",
          "start": 187192925
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187192926G>A",
        "CM000666.1:g.187192926G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187429920,
          "referenceAllele": "G",
          "start": 187429919
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187429920G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10809,
          "referenceAllele": "G",
          "start": 10808
        }
      ],
      "hgvs": [
        "NG_008051.1:g.10809G>A",
        "LRG_583:g.10809G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000807"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 326,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 326,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.7:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754055",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.218+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.218+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:n.218+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:n.218+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 252,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 252,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000264692.8:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264692.5:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 570,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000403665.6:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384957.2:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 315,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 315,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "ENST00000492972.6:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424479.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.3:c.218+1G>A",
        "LRG_583t1:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 570,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.2:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 570,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.2:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 570,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.2:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 570,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262824.1:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262881.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 570,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.1:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 570,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938706.1:n.570+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 570,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_938707.1:n.570+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_001354804.1:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341733.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262821.4:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262878.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262822.4:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262879.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_005262823.4:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262880.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_006714137.3:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714200.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538666"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007884.2:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863373.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562523"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007885.2:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863374.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XM_017007886.2:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863375.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562525"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "XR_001741172.2:n.551+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 326,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 326,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_000128.4:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000119.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674715",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000403665.7:c.218+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000128.4:c.218+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384957.2:n.218+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000119.1:n.218+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 326,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 326,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003529",
      "geneNCBI_id": 2160,
      "geneSymbol": "F11",
      "hgvs": [
        "NM_001354804.2:c.218+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341733.1:n.218+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690322"
    }
  ],
  "type": "nucleotide"
}