{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA368974648",
  "communityStandardTitle": [
    "NM_000492.4(CFTR):c.3763T>A (p.Ser1255Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1675154[alleleid]",
        "alleleId": 1675154,
        "preferredName": "NM_000492.4(CFTR):c.3763T>A (p.Ser1255Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1683255",
        "RCV": [
          "RCV002238576"
        ],
        "variationId": 1683255
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117282537T>A?assembly=hg19",
        "id": "chr7:g.117282537T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117642483T>A?assembly=hg38",
        "id": "chr7:g.117642483T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909041",
        "rs": 121909041
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117282537-T-A?dataset=gnomad_r2_1",
        "id": "7-117282537-T-A",
        "variant": "7:117282537 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117642483-T-A?dataset=gnomad_r3",
        "id": "7-117642483-T-A",
        "variant": "7:117642483 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117642483-T-A?dataset=gnomad_r4",
        "id": "7-117642483-T-A",
        "variant": "7:117642483 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 117642483,
          "referenceAllele": "T",
          "start": 117642482
        }
      ],
      "hgvs": [
        "NC_000007.14:g.117642483T>A",
        "CM000669.2:g.117642483T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 117282537,
          "referenceAllele": "T",
          "start": 117282536
        }
      ],
      "hgvs": [
        "NC_000007.13:g.117282537T>A",
        "CM000669.1:g.117282537T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 117069773,
          "referenceAllele": "T",
          "start": 117069772
        }
      ],
      "hgvs": [
        "NC_000007.12:g.117069773T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181700,
          "referenceAllele": "T",
          "start": 181699
        }
      ],
      "hgvs": [
        "NG_016465.4:g.181700T>A",
        "LRG_663:g.181700T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003205"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3670,
          "referenceAllele": "T",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.2:c.3563T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497673.2:p.Ile1188Asn",
        "hgvsWellDefined": "ENSP00000497673.2:p.Ile1188Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906457"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3738,
          "referenceAllele": "T",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.2:c.*3477T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*3477T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906459"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3664,
          "referenceAllele": "T",
          "start": 3663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.2:c.3580T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Ser1194Thr",
        "hgvsWellDefined": "ENSP00000497203.1:p.Ser1194Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3870,
          "referenceAllele": "T",
          "start": 3869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.2:c.3763T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.2:p.Ser1255Thr",
        "hgvsWellDefined": "ENSP00000510194.2:p.Ser1255Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4066,
          "referenceAllele": "T",
          "start": 4065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.2:c.*416T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.2:n.*416T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3670,
          "referenceAllele": "T",
          "start": 3669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699585.1:c.3563T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514456.1:p.Ile1188Asn",
        "hgvsWellDefined": "ENSP00000514456.1:p.Ile1188Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3870,
          "referenceAllele": "T",
          "start": 3869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699598.1:c.3763T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514467.1:p.Ser1255Thr",
        "hgvsWellDefined": "ENSP00000514467.1:p.Ser1255Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3870,
          "referenceAllele": "T",
          "start": 3869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699599.1:c.3763T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514468.1:p.Ser1255Thr",
        "hgvsWellDefined": "ENSP00000514468.1:p.Ser1255Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4074,
          "referenceAllele": "T",
          "start": 4073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699600.1:c.*424T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514469.1:n.*424T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3940,
          "referenceAllele": "T",
          "start": 3939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699601.1:c.*2138T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514470.1:n.*2138T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3864,
          "referenceAllele": "T",
          "start": 3863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699602.1:c.3757T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514471.1:p.Ser1253Thr",
        "hgvsWellDefined": "ENSP00000514471.1:p.Ser1253Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3845,
          "referenceAllele": "T",
          "start": 3844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699604.1:c.*3587T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514472.1:n.*3587T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3759,
          "referenceAllele": "T",
          "start": 3758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699605.1:c.3337T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514473.1:p.Ser1113Thr",
        "hgvsWellDefined": "ENSP00000514473.1:p.Ser1113Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 511,
          "referenceAllele": "T",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.1:c.511T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.1:p.Ser171Thr",
        "hgvsWellDefined": "ENSP00000510194.1:p.Ser171Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1550,
          "referenceAllele": "T",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.1:c.1550T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.1:n.1550T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 345,
          "referenceAllele": "T",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000689011.1:c.345T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3833,
          "referenceAllele": "T",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.11:c.3763T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Ser1255Thr",
        "hgvsWellDefined": "ENSP00000003084.6:p.Ser1255Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.3763T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.3763T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Ser1255Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Ser1255Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "T",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.1:c.1213T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3580,
          "referenceAllele": "T",
          "start": 3579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.1:c.3580T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Ser1194Thr",
        "hgvsWellDefined": "ENSP00000497203.1:p.Ser1194Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3895,
          "referenceAllele": "T",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.10:c.3763T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Ser1255Thr",
        "hgvsWellDefined": "ENSP00000003084.6:p.Ser1255Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247433"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3673,
          "referenceAllele": "T",
          "start": 3672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000426809.5:c.3673T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389119.1:p.Ser1225Thr",
        "hgvsWellDefined": "ENSP00000389119.1:p.Ser1225Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573171064",
      "coordinates": [
        {
          "allele": "A",
          "end": 3895,
          "referenceAllele": "T",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.3:c.3763T>A",
        "LRG_663t1:c.3763T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Ser1255Thr",
        "hgvsWellDefined": "NP_000483.3:p.Ser1255Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3881,
          "referenceAllele": "T",
          "start": 3880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515751.1:c.3853T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514053.1:p.Ser1285Thr",
        "hgvsWellDefined": "XP_011514053.1:p.Ser1285Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3895,
          "referenceAllele": "T",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.3853T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Ser1285Thr",
        "hgvsWellDefined": "XP_011514054.1:p.Ser1285Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3985,
          "referenceAllele": "T",
          "start": 3984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.3520T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Ser1174Thr",
        "hgvsWellDefined": "XP_011514055.1:p.Ser1174Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4903,
          "referenceAllele": "T",
          "start": 4902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.3520T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Ser1174Thr",
        "hgvsWellDefined": "XP_011514056.1:p.Ser1174Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573171064",
      "coordinates": [
        {
          "allele": "A",
          "end": 3833,
          "referenceAllele": "T",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.3763T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Ser1255Thr",
        "hgvsWellDefined": "NP_000483.3:p.Ser1255Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.3763T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.3763T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Ser1255Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Ser1255Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}