{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7216005",
  "communityStandardTitle": [
    "NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5019750"
      },
      {
        "active": false,
        "id": "COSM5762337"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2736349[alleleid]",
        "alleleId": 2736349,
        "preferredName": "NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2571397",
        "RCV": [
          "RCV003312797",
          "RCV003481485"
        ],
        "variationId": 2571397
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-62207557-C-T",
        "id": "14-62207557-C-T",
        "variant": "14:62207557 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.62207557C>T?assembly=hg19",
        "id": "chr14:g.62207557C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.61740839C>T?assembly=hg38",
        "id": "chr14:g.61740839C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11549465",
        "rs": 11549465
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-62207557-C-T?dataset=gnomad_r2_1",
        "id": "14-62207557-C-T",
        "variant": "14:62207557 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-61740839-C-T?dataset=gnomad_r3",
        "id": "14-61740839-C-T",
        "variant": "14:61740839 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-61740839-C-T?dataset=gnomad_r4",
        "id": "14-61740839-C-T",
        "variant": "14:61740839 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 61740839,
          "referenceAllele": "C",
          "start": 61740838
        }
      ],
      "hgvs": [
        "NC_000014.9:g.61740839C>T",
        "CM000676.2:g.61740839C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 62207557,
          "referenceAllele": "C",
          "start": 62207556
        }
      ],
      "hgvs": [
        "NC_000014.8:g.62207557C>T",
        "CM000676.1:g.62207557C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 61277310,
          "referenceAllele": "C",
          "start": 61277309
        }
      ],
      "hgvs": [
        "NC_000014.7:g.61277310C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 50439,
          "referenceAllele": "C",
          "start": 50438
        }
      ],
      "hgvs": [
        "NG_029606.1:g.50439C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004526"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2036,
          "referenceAllele": "C",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000337138.9:c.1744C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338018.4:p.Pro582Ser",
        "hgvsWellDefined": "ENSP00000338018.4:p.Pro582Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747636",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337138.9:c.1744C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001530.4:c.1744C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338018.4:p.Pro582Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001521.1:p.Pro582Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "referenceAllele": "C",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000323441.10:c.1744C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323326.6:p.Pro582Ser",
        "hgvsWellDefined": "ENSP00000323326.6:p.Pro582Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2009,
          "referenceAllele": "C",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000337138.8:c.1744C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338018.4:p.Pro582Ser",
        "hgvsWellDefined": "ENSP00000338018.4:p.Pro582Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2012,
          "referenceAllele": "C",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000394997.5:c.1747C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378446.1:p.Pro583Ser",
        "hgvsWellDefined": "ENSP00000378446.1:p.Pro583Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000539097.2:c.1816C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437955.1:p.Pro606Ser",
        "hgvsWellDefined": "ENSP00000437955.1:p.Pro606Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000547430.2:n.652C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000555014.1:n.390C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "ENST00000557538.5:c.1567C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451696.1:p.Pro523Ser",
        "hgvsWellDefined": "ENSP00000451696.1:p.Pro523Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741845103",
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001243084.1:c.1816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230013.1:p.Pro606Ser",
        "hgvsWellDefined": "NP_001230013.1:p.Pro606Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829324415",
      "coordinates": [
        {
          "allele": "T",
          "end": 2148,
          "referenceAllele": "C",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001530.3:c.1744C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001521.1:p.Pro582Ser",
        "hgvsWellDefined": "NP_001521.1:p.Pro582Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830386105",
      "coordinates": [
        {
          "allele": "T",
          "end": 2148,
          "referenceAllele": "C",
          "start": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_181054.2:c.1744C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851397.1:p.Pro582Ser",
        "hgvsWellDefined": "NP_851397.1:p.Pro582Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10046,
          "referenceAllele": "G",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943925.1:n.213+10046G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10046,
          "referenceAllele": "G",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943926.1:n.213+10046G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10046,
          "referenceAllele": "G",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943927.1:n.213+10046G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137923"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10046,
          "referenceAllele": "G",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943928.1:n.213+10046G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10046,
          "referenceAllele": "G",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "XR_943929.1:n.213+10046G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "endIntronDirection": "+",
          "endIntronOffset": 10046,
          "referenceAllele": "G",
          "start": 213,
          "startIntronDirection": "+",
          "startIntronOffset": 10045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054284",
      "geneNCBI_id": 105370526,
      "geneSymbol": "HIF1A-AS3",
      "hgvs": [
        "NR_144368.1:n.213+10046G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829324415",
      "coordinates": [
        {
          "allele": "T",
          "end": 2036,
          "referenceAllele": "C",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001530.4:c.1744C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001521.1:p.Pro582Ser",
        "hgvsWellDefined": "NP_001521.1:p.Pro582Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665030",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337138.9:c.1744C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001530.4:c.1744C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338018.4:p.Pro582Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001521.1:p.Pro582Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830386105",
      "coordinates": [
        {
          "allele": "T",
          "end": 2036,
          "referenceAllele": "C",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_181054.3:c.1744C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851397.1:p.Pro582Ser",
        "hgvsWellDefined": "NP_851397.1:p.Pro582Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700909"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741845103",
      "coordinates": [
        {
          "allele": "T",
          "end": 1955,
          "referenceAllele": "C",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004910",
      "geneNCBI_id": 3091,
      "geneSymbol": "HIF1A",
      "hgvs": [
        "NM_001243084.2:c.1816C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230013.1:p.Pro606Ser",
        "hgvsWellDefined": "NP_001230013.1:p.Pro606Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714434"
    }
  ],
  "type": "nucleotide"
}