{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA325558",
  "communityStandardTitle": [
    "NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3922555",
        "active": true,
        "id": "COSM3922555"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22201[alleleid]",
        "alleleId": 22201,
        "preferredName": "NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7162",
        "RCV": [
          "RCV000007582",
          "RCV000723839",
          "RCV001001063",
          "RCV001004298",
          "RCV001831541",
          "RCV002496299",
          "RCV003473029"
        ],
        "variationId": 7162
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-117251691-C-T",
        "id": "7-117251691-C-T",
        "variant": "7:117251691 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117251691C>T?assembly=hg19",
        "id": "chr7:g.117251691C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117611637C>T?assembly=hg38",
        "id": "chr7:g.117611637C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/78194216",
        "rs": 78194216
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117251691-C-T?dataset=gnomad_r2_1",
        "id": "7-117251691-C-T",
        "variant": "7:117251691 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117611637-C-T?dataset=gnomad_r3",
        "id": "7-117611637-C-T",
        "variant": "7:117611637 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117611637-C-T?dataset=gnomad_r4",
        "id": "7-117611637-C-T",
        "variant": "7:117611637 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 117611637,
          "referenceAllele": "C",
          "start": 117611636
        }
      ],
      "hgvs": [
        "NC_000007.14:g.117611637C>T",
        "CM000669.2:g.117611637C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 117251691,
          "referenceAllele": "C",
          "start": 117251690
        }
      ],
      "hgvs": [
        "NC_000007.13:g.117251691C>T",
        "CM000669.1:g.117251691C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 117038927,
          "referenceAllele": "C",
          "start": 117038926
        }
      ],
      "hgvs": [
        "NC_000007.12:g.117038927C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150854,
          "referenceAllele": "C",
          "start": 150853
        }
      ],
      "hgvs": [
        "NG_016465.4:g.150854C>T",
        "LRG_663:g.150854C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003205"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3303,
          "referenceAllele": "C",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.2:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497673.2:p.Arg1066Cys",
        "hgvsWellDefined": "ENSP00000497673.2:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3171,
          "referenceAllele": "C",
          "start": 3170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.2:c.*2910C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*2910C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3097,
          "referenceAllele": "C",
          "start": 3096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.2:c.3013C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Arg1005Cys",
        "hgvsWellDefined": "ENSP00000497203.1:p.Arg1005Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3303,
          "referenceAllele": "C",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.2:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.2:p.Arg1066Cys",
        "hgvsWellDefined": "ENSP00000510194.2:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3303,
          "referenceAllele": "C",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.2:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.2:p.Arg1066Cys",
        "hgvsWellDefined": "ENSP00000509593.2:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3303,
          "referenceAllele": "C",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699585.1:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514456.1:p.Arg1066Cys",
        "hgvsWellDefined": "ENSP00000514456.1:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3303,
          "referenceAllele": "C",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699598.1:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514467.1:p.Arg1066Cys",
        "hgvsWellDefined": "ENSP00000514467.1:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3303,
          "referenceAllele": "C",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699599.1:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514468.1:p.Arg1066Cys",
        "hgvsWellDefined": "ENSP00000514468.1:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3303,
          "referenceAllele": "C",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699600.1:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514469.1:p.Arg1066Cys",
        "hgvsWellDefined": "ENSP00000514469.1:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3298,
          "referenceAllele": "C",
          "start": 3297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699601.1:c.*1496C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514470.1:n.*1496C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3303,
          "referenceAllele": "C",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699602.1:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514471.1:p.Arg1066Cys",
        "hgvsWellDefined": "ENSP00000514471.1:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3278,
          "referenceAllele": "C",
          "start": 3277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699604.1:c.*3020C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514472.1:n.*3020C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3192,
          "referenceAllele": "C",
          "start": 3191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699605.1:c.2770C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514473.1:p.Arg924Cys",
        "hgvsWellDefined": "ENSP00000514473.1:p.Arg924Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 787,
          "referenceAllele": "C",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.1:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.1:p.Arg263Cys",
        "hgvsWellDefined": "ENSP00000509593.1:p.Arg263Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3266,
          "referenceAllele": "C",
          "start": 3265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.11:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Arg1066Cys",
        "hgvsWellDefined": "ENSP00000003084.6:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.3196C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.3196C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Arg1066Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Arg1066Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.1:c.846C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2062,
          "referenceAllele": "C",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000648260.1:c.1978C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497957.1:p.Arg660Cys",
        "hgvsWellDefined": "ENSP00000497957.1:p.Arg660Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3097,
          "referenceAllele": "C",
          "start": 3096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649406.1:c.3013C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497965.1:p.Arg1005Cys",
        "hgvsWellDefined": "ENSP00000497965.1:p.Arg1005Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3013,
          "referenceAllele": "C",
          "start": 3012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.1:c.3013C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Arg1005Cys",
        "hgvsWellDefined": "ENSP00000497203.1:p.Arg1005Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3328,
          "referenceAllele": "C",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.10:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Arg1066Cys",
        "hgvsWellDefined": "ENSP00000003084.6:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3106,
          "referenceAllele": "C",
          "start": 3105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000426809.5:c.3106C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389119.1:p.Arg1036Cys",
        "hgvsWellDefined": "ENSP00000389119.1:p.Arg1036Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21,
          "referenceAllele": "C",
          "start": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000468795.1:c.21C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311626"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093598",
      "coordinates": [
        {
          "allele": "T",
          "end": 3328,
          "referenceAllele": "C",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.3:c.3196C>T",
        "LRG_663t1:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Arg1066Cys",
        "hgvsWellDefined": "NP_000483.3:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3314,
          "referenceAllele": "C",
          "start": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515751.1:c.3286C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514053.1:p.Arg1096Cys",
        "hgvsWellDefined": "XP_011514053.1:p.Arg1096Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3328,
          "referenceAllele": "C",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.3286C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Arg1096Cys",
        "hgvsWellDefined": "XP_011514054.1:p.Arg1096Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3418,
          "referenceAllele": "C",
          "start": 3417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.2953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Arg985Cys",
        "hgvsWellDefined": "XP_011514055.1:p.Arg985Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4336,
          "referenceAllele": "C",
          "start": 4335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.2953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Arg985Cys",
        "hgvsWellDefined": "XP_011514056.1:p.Arg985Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093598",
      "coordinates": [
        {
          "allele": "T",
          "end": 3266,
          "referenceAllele": "C",
          "start": 3265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.3196C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Arg1066Cys",
        "hgvsWellDefined": "NP_000483.3:p.Arg1066Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.3196C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.3196C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Arg1066Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Arg1066Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}