{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6357574",
  "communityStandardTitle": [
    "NM_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=687311",
        "active": true,
        "id": "COSM687311"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=966271[alleleid]",
        "alleleId": 966271,
        "preferredName": "NM_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/978165",
        "RCV": [
          "RCV001256121",
          "RCV001879954"
        ],
        "variationId": 978165
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-128710050-C-T",
        "id": "11-128710050-C-T",
        "variant": "11:128710050 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.128710050C>T?assembly=hg19",
        "id": "chr11:g.128710050C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.128840155C>T?assembly=hg38",
        "id": "chr11:g.128840155C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764078087",
        "rs": 764078087
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-128710050-C-T?dataset=gnomad_r2_1",
        "id": "11-128710050-C-T",
        "variant": "11:128710050 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-128840155-C-T?dataset=gnomad_r3",
        "id": "11-128840155-C-T",
        "variant": "11:128840155 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-128840155-C-T?dataset=gnomad_r4",
        "id": "11-128840155-C-T",
        "variant": "11:128840155 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 128840155,
          "referenceAllele": "C",
          "start": 128840154
        }
      ],
      "hgvs": [
        "NC_000011.10:g.128840155C>T",
        "CM000673.2:g.128840155C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 128710050,
          "referenceAllele": "C",
          "start": 128710049
        }
      ],
      "hgvs": [
        "NC_000011.9:g.128710050C>T",
        "CM000673.1:g.128710050C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 128215260,
          "referenceAllele": "C",
          "start": 128215259
        }
      ],
      "hgvs": [
        "NC_000011.8:g.128215260C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32219,
          "referenceAllele": "G",
          "start": 32218
        }
      ],
      "hgvs": [
        "NG_009379.1:g.32219G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001581"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000392666.6:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376434.1:p.Cys30Tyr",
        "hgvsWellDefined": "ENSP00000376434.1:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753037",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392666.6:c.89G>A"
          },
          "RefSeq": {
            "hgvs": "NM_153766.3:c.89G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376434.1:p.Cys30Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_722450.1:p.Cys30Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000324003.3:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316136.3:p.Cys30Tyr",
        "hgvsWellDefined": "ENSP00000316136.3:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000324036.7:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316233.3:p.Cys30Tyr",
        "hgvsWellDefined": "ENSP00000316233.3:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 263,
          "referenceAllele": "G",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000392664.2:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376432.2:p.Cys49Tyr",
        "hgvsWellDefined": "ENSP00000376432.2:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000392665.6:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376433.2:p.Cys30Tyr",
        "hgvsWellDefined": "ENSP00000376433.2:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000392666.5:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376434.1:p.Cys30Tyr",
        "hgvsWellDefined": "ENSP00000376434.1:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000440599.6:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406320.2:p.Cys30Tyr",
        "hgvsWellDefined": "ENSP00000406320.2:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "ENST00000531562.1:n.434G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139669843",
      "coordinates": [
        {
          "allele": "A",
          "end": 263,
          "referenceAllele": "G",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_000220.4:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000211.1:p.Cys49Tyr",
        "hgvsWellDefined": "NP_000211.1:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830336771",
      "coordinates": [
        {
          "allele": "A",
          "end": 311,
          "referenceAllele": "G",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153764.2:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722448.1:p.Cys30Tyr",
        "hgvsWellDefined": "NP_722448.1:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830337004",
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "referenceAllele": "G",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153765.2:c.140G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722449.3:p.Cys47Tyr",
        "hgvsWellDefined": "NP_722449.3:p.Cys47Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830337225",
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153766.2:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722450.1:p.Cys30Tyr",
        "hgvsWellDefined": "NP_722450.1:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830337432",
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153767.3:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722451.1:p.Cys30Tyr",
        "hgvsWellDefined": "NP_722451.1:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139669843",
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_000220.6:c.146G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000211.1:p.Cys49Tyr",
        "hgvsWellDefined": "NP_000211.1:p.Cys49Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830336771",
      "coordinates": [
        {
          "allele": "A",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153764.3:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722448.1:p.Cys30Tyr",
        "hgvsWellDefined": "NP_722448.1:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700405"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830337004",
      "coordinates": [
        {
          "allele": "A",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153765.3:c.140G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722449.3:p.Cys47Tyr",
        "hgvsWellDefined": "NP_722449.3:p.Cys47Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700406"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830337225",
      "coordinates": [
        {
          "allele": "A",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153766.3:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722450.1:p.Cys30Tyr",
        "hgvsWellDefined": "NP_722450.1:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392666.6:c.89G>A"
          },
          "RefSeq": {
            "hgvs": "NM_153766.3:c.89G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376434.1:p.Cys30Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_722450.1:p.Cys30Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830337432",
      "coordinates": [
        {
          "allele": "A",
          "end": 537,
          "referenceAllele": "G",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006255",
      "geneNCBI_id": 3758,
      "geneSymbol": "KCNJ1",
      "hgvs": [
        "NM_153767.4:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_722451.1:p.Cys30Tyr",
        "hgvsWellDefined": "NP_722451.1:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700408"
    }
  ],
  "type": "nucleotide"
}