{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA11093415",
  "communityStandardTitle": [
    "NM_003151.4(STAT4):c.466-1307G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.191935804C>T?assembly=hg19",
        "id": "chr2:g.191935804C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.191071078C>T?assembly=hg38",
        "id": "chr2:g.191071078C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10168266",
        "rs": 10168266
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-191935804-C-T?dataset=gnomad_r2_1",
        "id": "2-191935804-C-T",
        "variant": "2:191935804 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-191071078-C-T?dataset=gnomad_r3",
        "id": "2-191071078-C-T",
        "variant": "2:191071078 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-191071078-C-T?dataset=gnomad_r4",
        "id": "2-191071078-C-T",
        "variant": "2:191071078 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 191071078,
          "referenceAllele": "C",
          "start": 191071077
        }
      ],
      "hgvs": [
        "NC_000002.12:g.191071078C>T",
        "CM000664.2:g.191071078C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 191935804,
          "referenceAllele": "C",
          "start": 191935803
        }
      ],
      "hgvs": [
        "NC_000002.11:g.191935804C>T",
        "CM000664.1:g.191935804C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 191644049,
          "referenceAllele": "C",
          "start": 191644048
        }
      ],
      "hgvs": [
        "NC_000002.10:g.191644049C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85122,
          "referenceAllele": "G",
          "start": 85121
        }
      ],
      "hgvs": [
        "NG_012852.1:g.85122G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002585"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "ENST00000392320.7:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376134.2:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392320.7:c.466-1307G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003151.4:c.466-1307G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376134.2:n.466-1307G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003142.1:n.466-1307G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 688,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 688,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "ENST00000647167.1:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495153.1:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769272"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 723,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 723,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "ENST00000358470.8:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351255.4:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 780,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "ENST00000392320.6:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376134.2:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275027"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 533,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "ENST00000495849.5:n.534-1307G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 729,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "NM_001243835.1:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230764.1:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 780,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 780,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "NM_003151.3:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003142.1:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 644,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "XM_005246817.3:c.493-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246874.1:n.493-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 488,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 488,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "XM_006712719.2:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712782.1:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2628,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 2628,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "XM_011511704.1:c.493-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510006.1:n.493-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 990,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 990,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "XM_011511705.1:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510007.1:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 655,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "XM_011511706.1:c.493-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510008.1:n.493-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078967"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 775,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "XM_006712719.3:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712782.1:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 926,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "XM_011511705.2:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510007.1:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 529,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "XM_017004784.2:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860273.1:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "NM_003151.4:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003142.1:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665903",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392320.7:c.466-1307G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003151.4:c.466-1307G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376134.2:n.466-1307G>A"
          },
          "RefSeq": {
            "hgvs": "NP_003142.1:n.466-1307G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "endIntronDirection": "-",
          "endIntronOffset": 1306,
          "referenceAllele": "G",
          "start": 729,
          "startIntronDirection": "-",
          "startIntronOffset": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011365",
      "geneNCBI_id": 6775,
      "geneSymbol": "STAT4",
      "hgvs": [
        "NM_001243835.2:c.466-1307G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230764.1:n.466-1307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680276"
    }
  ],
  "type": "nucleotide"
}