{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA261762379",
  "communityStandardTitle": [
    "NM_001530.4(HIF1A):c.36-1805T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.62185295T>C?assembly=hg19",
        "id": "chr14:g.62185295T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.61718577T>C?assembly=hg38",
        "id": "chr14:g.61718577T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8005745",
        "rs": 8005745
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-62185295-T-C?dataset=gnomad_r2_1",
        "id": "14-62185295-T-C",
        "variant": "14:62185295 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-61718577-T-C?dataset=gnomad_r3",
        "id": "14-61718577-T-C",
        "variant": "14:61718577 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-61718577-T-C?dataset=gnomad_r4",
        "id": "14-61718577-T-C",
        "variant": "14:61718577 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 61718577,
          "referenceAllele": "T",
          "start": 61718576
        }
      ],
      "hgvs": [
        "NC_000014.9:g.61718577T>C",
        "CM000676.2:g.61718577T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 62185295,
          "referenceAllele": "T",
          "start": 62185294
        }
      ],
      "hgvs": [
        "NC_000014.8:g.62185295T>C",
        "CM000676.1:g.62185295T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 61255048,
          "referenceAllele": "T",
          "start": 61255047
        }
      ],
      "hgvs": [
        "NC_000014.7:g.61255048T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28177,
          "referenceAllele": "T",
          "start": 28176
        }
      ],
      "hgvs": [
        "NG_029606.1:g.28177T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004526"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 1804,
          "referenceAllele": "T",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000337138.9:c.36-1805T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338018.4:n.36-1805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337138.9:c.36-1805T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001530.4:c.36-1805T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338018.4:n.36-1805T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001521.1:n.36-1805T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 63,
          "endIntronDirection": "-",
          "endIntronOffset": 1804,
          "referenceAllele": "T",
          "start": 63,
          "startIntronDirection": "-",
          "startIntronOffset": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000323441.10:c.36-1805T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323326.6:n.36-1805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 300,
          "endIntronDirection": "-",
          "endIntronOffset": 1804,
          "referenceAllele": "T",
          "start": 300,
          "startIntronDirection": "-",
          "startIntronOffset": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000337138.8:c.36-1805T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338018.4:n.36-1805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 300,
          "endIntronDirection": "-",
          "endIntronOffset": 1801,
          "referenceAllele": "T",
          "start": 300,
          "startIntronDirection": "-",
          "startIntronOffset": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000394997.5:c.36-1802T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378446.1:n.36-1802T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276464"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 1801,
          "referenceAllele": "T",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000539097.2:c.105-1802T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437955.1:n.105-1802T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 2931,
          "referenceAllele": "T",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 2932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000553999.5:n.328-2932T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 52,
          "endIntronDirection": "-",
          "endIntronOffset": 1804,
          "referenceAllele": "T",
          "start": 52,
          "startIntronDirection": "-",
          "startIntronOffset": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000557206.1:n.53-1805T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 2931,
          "referenceAllele": "T",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 2932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000557446.5:n.328-2932T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 1801,
          "referenceAllele": "T",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000557538.5:c.-145-1802T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451696.1:n.-145-1802T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 1801,
          "referenceAllele": "T",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001243084.1:c.105-1802T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230013.1:n.105-1802T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "endIntronDirection": "-",
          "endIntronOffset": 1804,
          "referenceAllele": "T",
          "start": 439,
          "startIntronDirection": "-",
          "startIntronOffset": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001530.3:c.36-1805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001521.1:n.36-1805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "endIntronDirection": "-",
          "endIntronOffset": 1804,
          "referenceAllele": "T",
          "start": 439,
          "startIntronDirection": "-",
          "startIntronOffset": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_181054.2:c.36-1805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_851397.1:n.36-1805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 1559,
          "referenceAllele": "A",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943925.1:n.214-1560A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137921"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 1559,
          "referenceAllele": "A",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943926.1:n.214-1560A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 1559,
          "referenceAllele": "A",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943927.1:n.214-1560A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137923"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 1559,
          "referenceAllele": "A",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943928.1:n.214-1560A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 1559,
          "referenceAllele": "A",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943929.1:n.214-1560A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 213,
          "endIntronDirection": "-",
          "endIntronOffset": 1559,
          "referenceAllele": "A",
          "start": 213,
          "startIntronDirection": "-",
          "startIntronOffset": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "NR_144368.1:n.214-1560A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 1804,
          "referenceAllele": "T",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001530.4:c.36-1805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001521.1:n.36-1805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665030",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337138.9:c.36-1805T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001530.4:c.36-1805T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338018.4:n.36-1805T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001521.1:n.36-1805T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "endIntronDirection": "-",
          "endIntronOffset": 1804,
          "referenceAllele": "T",
          "start": 327,
          "startIntronDirection": "-",
          "startIntronOffset": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_181054.3:c.36-1805T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_851397.1:n.36-1805T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 243,
          "endIntronDirection": "-",
          "endIntronOffset": 1801,
          "referenceAllele": "T",
          "start": 243,
          "startIntronDirection": "-",
          "startIntronOffset": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001243084.2:c.105-1802T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230013.1:n.105-1802T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714434"
    }
  ],
  "type": "nucleotide"
}