{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA120158",
  "communityStandardTitle": [
    "NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=71261",
        "active": true,
        "id": "COSM71261"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24198[alleleid]",
        "alleleId": 24198,
        "preferredName": "NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9159",
        "RCV": [
          "RCV000009729",
          "RCV003555992",
          "RCV004526591"
        ],
        "variationId": 9159
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.128709604C>T?assembly=hg19",
        "id": "chr11:g.128709604C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.128839709C>T?assembly=hg38",
        "id": "chr11:g.128839709C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894253",
        "rs": 104894253
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-128839709-C-T?dataset=gnomad_r4",
        "id": "11-128839709-C-T",
        "variant": "11:128839709 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 128839709,
          "referenceAllele": "C",
          "start": 128839708
        }
      ],
      "hgvs": [
        "NC_000011.10:g.128839709C>T",
        "CM000673.2:g.128839709C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 128709604,
          "referenceAllele": "C",
          "start": 128709603
        }
      ],
      "hgvs": [
        "NC_000011.9:g.128709604C>T",
        "CM000673.1:g.128709604C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 128214814,
          "referenceAllele": "C",
          "start": 128214813
        }
      ],
      "hgvs": [
        "NC_000011.8:g.128214814C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32665,
          "referenceAllele": "G",
          "start": 32664
        }
      ],
      "hgvs": [
        "NG_009379.1:g.32665G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001581"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000392666.6:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376434.1:p.Ala179Thr",
        "hgvsWellDefined": "ENSP00000376434.1:p.Ala179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392666.6:c.535G>A"
          },
          "RefSeq": {
            "hgvs": "NM_153766.3:c.535G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376434.1:p.Ala179Thr"
          },
          "RefSeq": {
            "hgvs": "NP_722450.1:p.Ala179Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000324036.7:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316233.3:p.Ala179Thr",
        "hgvsWellDefined": "ENSP00000316233.3:p.Ala179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "G",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000392664.2:c.592G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376432.2:p.Ala198Thr",
        "hgvsWellDefined": "ENSP00000376432.2:p.Ala198Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000392665.6:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376433.2:p.Ala179Thr",
        "hgvsWellDefined": "ENSP00000376433.2:p.Ala179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000392666.5:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376434.1:p.Ala179Thr",
        "hgvsWellDefined": "ENSP00000376434.1:p.Ala179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000440599.6:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406320.2:p.Ala179Thr",
        "hgvsWellDefined": "ENSP00000406320.2:p.Ala179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111820",
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "G",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_000220.4:c.592G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000211.1:p.Ala198Thr",
        "hgvsWellDefined": "NP_000211.1:p.Ala198Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830336857",
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153764.2:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722448.1:p.Ala179Thr",
        "hgvsWellDefined": "NP_722448.1:p.Ala179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830337092",
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "referenceAllele": "G",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153765.2:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722449.3:p.Ala196Thr",
        "hgvsWellDefined": "NP_722449.3:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830337316",
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153766.2:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722450.1:p.Ala179Thr",
        "hgvsWellDefined": "NP_722450.1:p.Ala179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA120159",
      "coordinates": [
        {
          "allele": "A",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153767.3:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722451.1:p.Ala179Thr",
        "hgvsWellDefined": "NP_722451.1:p.Ala179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111820",
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_000220.6:c.592G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000211.1:p.Ala198Thr",
        "hgvsWellDefined": "NP_000211.1:p.Ala198Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830336857",
      "coordinates": [
        {
          "allele": "A",
          "end": 680,
          "referenceAllele": "G",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153764.3:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722448.1:p.Ala179Thr",
        "hgvsWellDefined": "NP_722448.1:p.Ala179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830337092",
      "coordinates": [
        {
          "allele": "A",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153765.3:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722449.3:p.Ala196Thr",
        "hgvsWellDefined": "NP_722449.3:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700406"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830337316",
      "coordinates": [
        {
          "allele": "A",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153766.3:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722450.1:p.Ala179Thr",
        "hgvsWellDefined": "NP_722450.1:p.Ala179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392666.6:c.535G>A"
          },
          "RefSeq": {
            "hgvs": "NM_153766.3:c.535G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376434.1:p.Ala179Thr"
          },
          "RefSeq": {
            "hgvs": "NP_722450.1:p.Ala179Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA120159",
      "coordinates": [
        {
          "allele": "A",
          "end": 983,
          "referenceAllele": "G",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153767.4:c.535G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722451.1:p.Ala179Thr",
        "hgvsWellDefined": "NP_722451.1:p.Ala179Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700408"
    }
  ],
  "type": "nucleotide"
}