{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1737335166",
  "communityStandardTitle": [
    "NM_000492.4(CFTR):c.137C= (p.Ala46=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151020603",
        "rs": 151020603
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 117504336,
          "referenceAllele": "C",
          "start": 117504335
        }
      ],
      "hgvs": [
        "NC_000007.14:g.117504336C=",
        "CM000669.2:g.117504336C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 117144390,
          "referenceAllele": "C",
          "start": 117144389
        }
      ],
      "hgvs": [
        "NC_000007.13:g.117144390C=",
        "CM000669.1:g.117144390C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 116931626,
          "referenceAllele": "C",
          "start": 116931625
        }
      ],
      "hgvs": [
        "NC_000007.12:g.116931626C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 43553,
          "referenceAllele": "C",
          "start": 43552
        }
      ],
      "hgvs": [
        "NG_016465.4:g.43553C=",
        "LRG_663:g.43553C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003205"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.2:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497673.2:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.2:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.2:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649850.2:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514457.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906474"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.2:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.2:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.2:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.2:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 222,
          "referenceAllele": "C",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000693465.2:n.222C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906585"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699585.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514456.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699596.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514465.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910476"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699597.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514466.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699598.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514467.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699599.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514468.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910479"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699600.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514469.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699601.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514470.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699602.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514471.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699604.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514472.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 316,
          "referenceAllele": "C",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699605.1:c.-107C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514473.1:n.-107C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 474,
          "referenceAllele": "C",
          "start": 473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000446805.2:c.-107C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417012.1:n.-107C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000693465.1:n.207C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.11:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.137C="
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.137C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Ala46="
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Ala46="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647639.1:n.221C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769718"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000648260.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497957.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649406.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497965.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "C",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770746"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 220,
          "referenceAllele": "C",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649850.1:n.220C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000673785.1:c.-107C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501235.1:n.-107C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.10:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247433"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 137,
          "referenceAllele": "C",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000426809.5:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389119.1:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000446805.1:c.-107C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417012.1:n.-107C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298910"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073489977",
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.3:c.137C=",
        "LRG_663t1:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006546"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 255,
          "referenceAllele": "C",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515751.1:c.227C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514053.1:p.Ala76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.227C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Ala76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 359,
          "referenceAllele": "C",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.-107C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:n.-107C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1203,
          "referenceAllele": "C",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.-181C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:n.-181C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073489977",
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.137C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Ala46="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.137C="
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.137C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Ala46="
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Ala46="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}