{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1737404802",
  "communityStandardTitle": [
    "NM_000492.4(CFTR):c.3846G= (p.Trp1282=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77010898",
        "rs": 77010898
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 117642566,
          "referenceAllele": "G",
          "start": 117642565
        }
      ],
      "hgvs": [
        "NC_000007.14:g.117642566G=",
        "CM000669.2:g.117642566G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 117282620,
          "referenceAllele": "G",
          "start": 117282619
        }
      ],
      "hgvs": [
        "NC_000007.13:g.117282620G=",
        "CM000669.1:g.117282620G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 117069856,
          "referenceAllele": "G",
          "start": 117069855
        }
      ],
      "hgvs": [
        "NC_000007.12:g.117069856G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 181783,
          "referenceAllele": "G",
          "start": 181782
        }
      ],
      "hgvs": [
        "NG_016465.4:g.181783G=",
        "LRG_663:g.181783G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003205"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3753,
          "referenceAllele": "G",
          "start": 3752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.2:c.*55G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497673.2:n.*55G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3821,
          "referenceAllele": "G",
          "start": 3820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.2:c.*3560G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*3560G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3747,
          "referenceAllele": "G",
          "start": 3746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.2:c.3663G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Trp1221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3953,
          "referenceAllele": "G",
          "start": 3952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.2:c.3846G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.2:p.Trp1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4149,
          "referenceAllele": "G",
          "start": 4148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.2:c.*499G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.2:n.*499G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3753,
          "referenceAllele": "G",
          "start": 3752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699585.1:c.*55G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514456.1:n.*55G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3953,
          "referenceAllele": "G",
          "start": 3952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699598.1:c.3846G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514467.1:p.Trp1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3953,
          "referenceAllele": "G",
          "start": 3952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699599.1:c.3846G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514468.1:p.Trp1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4157,
          "referenceAllele": "G",
          "start": 4156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699600.1:c.*507G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514469.1:n.*507G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4023,
          "referenceAllele": "G",
          "start": 4022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699601.1:c.*2221G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514470.1:n.*2221G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3947,
          "referenceAllele": "G",
          "start": 3946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699602.1:c.3840G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514471.1:p.Trp1280="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3928,
          "referenceAllele": "G",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699604.1:c.*3670G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514472.1:n.*3670G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910484"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3842,
          "referenceAllele": "G",
          "start": 3841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699605.1:c.3420G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514473.1:p.Trp1140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.1:c.594G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.1:p.Trp198="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1633,
          "referenceAllele": "G",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.1:c.1633G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.1:n.1633G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000689011.1:c.428G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3916,
          "referenceAllele": "G",
          "start": 3915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.11:c.3846G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Trp1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.3846G="
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.3846G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Trp1282="
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Trp1282="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1296,
          "referenceAllele": "G",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.1:c.1296G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3663,
          "referenceAllele": "G",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.1:c.3663G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Trp1221="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3978,
          "referenceAllele": "G",
          "start": 3977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.10:c.3846G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Trp1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3756,
          "referenceAllele": "G",
          "start": 3755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000426809.5:c.3756G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389119.1:p.Trp1252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073455373",
      "coordinates": [
        {
          "allele": "G",
          "end": 3978,
          "referenceAllele": "G",
          "start": 3977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.3:c.3846G=",
        "LRG_663t1:c.3846G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Trp1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3964,
          "referenceAllele": "G",
          "start": 3963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515751.1:c.3936G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514053.1:p.Trp1312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3978,
          "referenceAllele": "G",
          "start": 3977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.3936G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Trp1312="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4068,
          "referenceAllele": "G",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.3603G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Trp1201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4986,
          "referenceAllele": "G",
          "start": 4985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.3603G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Trp1201="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073455373",
      "coordinates": [
        {
          "allele": "G",
          "end": 3916,
          "referenceAllele": "G",
          "start": 3915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.3846G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Trp1282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.3846G="
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.3846G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Trp1282="
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Trp1282="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}