{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118813",
  "communityStandardTitle": [
    "NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2085031",
        "active": true,
        "id": "COSM2085031"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2085032",
        "active": true,
        "id": "COSM2085032"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22506[alleleid]",
        "alleleId": 22506,
        "preferredName": "NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7467",
        "RCV": [
          "RCV000007893",
          "RCV000413534",
          "RCV002490337"
        ],
        "variationId": 7467
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.160011434G>A?assembly=hg19",
        "id": "chr1:g.160011434G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.160041644G>A?assembly=hg38",
        "id": "chr1:g.160041644G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853071",
        "rs": 137853071
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-160011434-G-A?dataset=gnomad_r2_1",
        "id": "1-160011434-G-A",
        "variant": "1:160011434 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-160041644-G-A?dataset=gnomad_r4",
        "id": "1-160041644-G-A",
        "variant": "1:160041644 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 160041644,
          "referenceAllele": "G",
          "start": 160041643
        }
      ],
      "hgvs": [
        "NC_000001.11:g.160041644G>A",
        "CM000663.2:g.160041644G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 160011434,
          "referenceAllele": "G",
          "start": 160011433
        }
      ],
      "hgvs": [
        "NC_000001.10:g.160011434G>A",
        "CM000663.1:g.160011434G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 158278058,
          "referenceAllele": "G",
          "start": 158278057
        }
      ],
      "hgvs": [
        "NC_000001.9:g.158278058G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33528,
          "referenceAllele": "C",
          "start": 33527
        }
      ],
      "hgvs": [
        "NG_016411.1:g.33528C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003168"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "C",
          "start": 671,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000509700.2:c.671+190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "endIntronDirection": "-",
          "endIntronOffset": 2295,
          "referenceAllele": "C",
          "start": 94,
          "startIntronDirection": "-",
          "startIntronOffset": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000636689.1:n.95-2296C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "endIntronDirection": "+",
          "endIntronOffset": 402,
          "referenceAllele": "C",
          "start": 585,
          "startIntronDirection": "+",
          "startIntronOffset": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000637644.1:c.487+402C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490282.1:n.487+402C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000638728.1:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492619.1:p.Arg297Cys",
        "hgvsWellDefined": "ENSP00000492619.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000638840.1:c.611C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "C",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000638868.1:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491250.1:p.Arg297Cys",
        "hgvsWellDefined": "ENSP00000491250.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "endIntronDirection": "+",
          "endIntronOffset": 402,
          "referenceAllele": "C",
          "start": 602,
          "startIntronDirection": "+",
          "startIntronOffset": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000639408.1:c.487+402C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491635.1:n.487+402C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "C",
          "start": 669,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000640017.1:c.669+190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491337.1:n.669+190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "C",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000640914.1:c.124+190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000644903.1:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495557.1:p.Arg297Cys",
        "hgvsWellDefined": "ENSP00000495557.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644903.1:c.889C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002241.5:c.889C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495557.1:p.Arg297Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002232.2:p.Arg297Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000368089.3:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357068.3:p.Arg297Cys",
        "hgvsWellDefined": "ENSP00000357068.3:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 462,
          "endIntronDirection": "+",
          "endIntronOffset": 190,
          "referenceAllele": "C",
          "start": 462,
          "startIntronDirection": "+",
          "startIntronOffset": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "ENST00000509700.1:n.462+190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103684",
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "NM_002241.4:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002232.2:p.Arg297Cys",
        "hgvsWellDefined": "NP_002232.2:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103684",
      "coordinates": [
        {
          "allele": "T",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006256",
      "geneNCBI_id": 3766,
      "geneSymbol": "KCNJ10",
      "hgvs": [
        "NM_002241.5:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002232.2:p.Arg297Cys",
        "hgvsWellDefined": "NP_002232.2:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665431",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000644903.1:c.889C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002241.5:c.889C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495557.1:p.Arg297Cys"
          },
          "RefSeq": {
            "hgvs": "NP_002232.2:p.Arg297Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}