{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1737384890",
  "communityStandardTitle": [
    "NM_000492.4(CFTR):c.1572C= (p.Cys524=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908754",
        "rs": 121908754
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 117559643,
          "referenceAllele": "C",
          "start": 117559642
        }
      ],
      "hgvs": [
        "NC_000007.14:g.117559643C=",
        "CM000669.2:g.117559643C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 117199697,
          "referenceAllele": "C",
          "start": 117199696
        }
      ],
      "hgvs": [
        "NC_000007.13:g.117199697C=",
        "CM000669.1:g.117199697C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 116986933,
          "referenceAllele": "C",
          "start": 116986932
        }
      ],
      "hgvs": [
        "NC_000007.12:g.116986933C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 98860,
          "referenceAllele": "C",
          "start": 98859
        }
      ],
      "hgvs": [
        "NG_016465.4:g.98860C=",
        "LRG_663:g.98860C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003205"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.2:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497673.2:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.2:c.*1286C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*1286C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1473,
          "referenceAllele": "C",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.2:c.1389C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Cys463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.2:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.2:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.2:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.2:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699585.1:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514456.1:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699596.1:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514465.1:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699597.1:c.*130C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514466.1:n.*130C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699598.1:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514467.1:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699599.1:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514468.1:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699600.1:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514469.1:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699601.1:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514470.1:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1679,
          "referenceAllele": "C",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699602.1:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514471.1:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1654,
          "referenceAllele": "C",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699604.1:c.*1396C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514472.1:n.*1396C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1568,
          "referenceAllele": "C",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699605.1:c.1146C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514473.1:p.Cys382="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.11:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.1572C="
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.1572C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Cys524="
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Cys524="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.1:c.*1286C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*1286C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1473,
          "referenceAllele": "C",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000648260.1:c.1389C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497957.1:p.Cys463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1473,
          "referenceAllele": "C",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649406.1:c.1389C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497965.1:p.Cys463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1389,
          "referenceAllele": "C",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.1:c.1389C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Cys463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1704,
          "referenceAllele": "C",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.10:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247433"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000426809.5:c.1482C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389119.1:p.Cys494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6,
          "referenceAllele": "C",
          "start": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000472848.1:n.6C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461817",
      "coordinates": [
        {
          "allele": "C",
          "end": 1704,
          "referenceAllele": "C",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.3:c.1572C=",
        "LRG_663t1:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515751.1:c.1662C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514053.1:p.Cys554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1704,
          "referenceAllele": "C",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.1662C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Cys554="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "referenceAllele": "C",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.1329C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Cys443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2712,
          "referenceAllele": "C",
          "start": 2711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.1329C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Cys443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 1090,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040144",
      "geneNCBI_id": 111082987,
      "geneSymbol": "CFTR-AS1",
      "hgvs": [
        "NR_149084.1:n.221+1090G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461817",
      "coordinates": [
        {
          "allele": "C",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.1572C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Cys524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.1572C="
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.1572C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Cys524="
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Cys524="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}