{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9195479",
  "communityStandardTitle": [
    "NM_203500.2(KEAP1):c.1413C>G (p.Leu471=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM148507"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-10600442-G-C",
        "id": "19-10600442-G-C",
        "variant": "19:10600442 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.10600442G>C?assembly=hg19",
        "id": "chr19:g.10600442G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.10489766G>C?assembly=hg38",
        "id": "chr19:g.10489766G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1048290",
        "rs": 1048290
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-10600442-G-C?dataset=gnomad_r2_1",
        "id": "19-10600442-G-C",
        "variant": "19:10600442 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-10489766-G-C?dataset=gnomad_r3",
        "id": "19-10489766-G-C",
        "variant": "19:10489766 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-10489766-G-C?dataset=gnomad_r4",
        "id": "19-10489766-G-C",
        "variant": "19:10489766 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 10489766,
          "referenceAllele": "G",
          "start": 10489765
        }
      ],
      "hgvs": [
        "NC_000019.10:g.10489766G>C",
        "CM000681.2:g.10489766G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 10600442,
          "referenceAllele": "G",
          "start": 10600441
        }
      ],
      "hgvs": [
        "NC_000019.9:g.10600442G>C",
        "CM000681.1:g.10600442G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 10461442,
          "referenceAllele": "G",
          "start": 10461441
        }
      ],
      "hgvs": [
        "NC_000019.8:g.10461442G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "ENST00000171111.10:c.1413C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000171111.4:p.Leu471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740073",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000171111.10:c.1413C>G"
          },
          "RefSeq": {
            "hgvs": "NM_203500.2:c.1413C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000171111.4:p.Leu471="
          },
          "RefSeq": {
            "hgvs": "NP_987096.1:p.Leu471="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1961,
          "referenceAllele": "C",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "ENST00000171111.9:c.1413C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000171111.4:p.Leu471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "ENST00000393623.6:c.1413C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377245.1:p.Leu471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 397,
          "referenceAllele": "C",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "ENST00000590593.1:c.305-398C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 232,
          "referenceAllele": "C",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "ENST00000592478.5:c.232C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393593"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085846045",
      "coordinates": [
        {
          "allele": "G",
          "end": 1569,
          "referenceAllele": "C",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "NM_012289.3:c.1413C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036421.2:p.Leu471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "NM_203500.1:c.1413C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_987096.1:p.Leu471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "XM_005260173.1:c.1413C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260230.1:p.Leu471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1752,
          "referenceAllele": "C",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "XM_005260174.1:c.1413C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260231.1:p.Leu471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1554,
          "referenceAllele": "C",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "XM_011528452.1:c.1413C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526754.1:p.Leu471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "NM_203500.2:c.1413C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_987096.1:p.Leu471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673249",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000171111.10:c.1413C>G"
          },
          "RefSeq": {
            "hgvs": "NM_203500.2:c.1413C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000171111.4:p.Leu471="
          },
          "RefSeq": {
            "hgvs": "NP_987096.1:p.Leu471="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085846045",
      "coordinates": [
        {
          "allele": "G",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023177",
      "geneNCBI_id": 9817,
      "geneSymbol": "KEAP1",
      "hgvs": [
        "NM_012289.4:c.1413C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036421.2:p.Leu471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697037"
    }
  ],
  "type": "nucleotide"
}