{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1737394995",
  "communityStandardTitle": [
    "NM_000492.4(CFTR):c.2195T= (p.Leu732=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397508350",
        "rs": 397508350
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 117592362,
          "referenceAllele": "T",
          "start": 117592361
        }
      ],
      "hgvs": [
        "NC_000007.14:g.117592362T=",
        "CM000669.2:g.117592362T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 117232416,
          "referenceAllele": "T",
          "start": 117232415
        }
      ],
      "hgvs": [
        "NC_000007.13:g.117232416T=",
        "CM000669.1:g.117232416T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 117019652,
          "referenceAllele": "T",
          "start": 117019651
        }
      ],
      "hgvs": [
        "NC_000007.12:g.117019652T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 131579,
          "referenceAllele": "T",
          "start": 131578
        }
      ],
      "hgvs": [
        "NG_016465.4:g.131579T=",
        "LRG_663:g.131579T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003205"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "T",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.2:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497673.2:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2170,
          "referenceAllele": "T",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.2:c.*1909T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*1909T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2096,
          "referenceAllele": "T",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.2:c.2012T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Leu671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "T",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.2:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.2:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "T",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.2:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.2:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "T",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699585.1:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514456.1:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "T",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699598.1:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514467.1:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "T",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699599.1:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514468.1:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "T",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699600.1:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514469.1:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699601.1:c.*495T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514470.1:n.*495T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "T",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699602.1:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514471.1:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2277,
          "referenceAllele": "T",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699604.1:c.*2019T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514472.1:n.*2019T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2191,
          "referenceAllele": "T",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699605.1:c.1769T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514473.1:p.Leu590="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2265,
          "referenceAllele": "T",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.11:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.2195T="
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.2195T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Leu732="
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Leu732="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2170,
          "referenceAllele": "T",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.1:c.*1909T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*1909T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
          "endIntronDirection": "-",
          "endIntronOffset": 10463,
          "referenceAllele": "T",
          "start": 1485,
          "startIntronDirection": "-",
          "startIntronOffset": 10464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000648260.1:c.1402-10464T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497957.1:n.1402-10464T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2096,
          "referenceAllele": "T",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649406.1:c.2012T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497965.1:p.Leu671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2012,
          "referenceAllele": "T",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.1:c.2012T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Leu671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2327,
          "referenceAllele": "T",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.10:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "T",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000426809.5:c.2105T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389119.1:p.Leu702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073559453",
      "coordinates": [
        {
          "allele": "T",
          "end": 2327,
          "referenceAllele": "T",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.3:c.2195T=",
        "LRG_663t1:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515751.1:c.2285T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514053.1:p.Leu762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2327,
          "referenceAllele": "T",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.2285T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Leu762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2417,
          "referenceAllele": "T",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.1952T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Leu651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3335,
          "referenceAllele": "T",
          "start": 3334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.1952T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Leu651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073559453",
      "coordinates": [
        {
          "allele": "T",
          "end": 2265,
          "referenceAllele": "T",
          "start": 2264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.2195T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Leu732="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.2195T="
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.2195T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Leu732="
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Leu732="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}