{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5902197",
  "communityStandardTitle": [
    "NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=319489[alleleid]",
        "alleleId": 319489,
        "preferredName": "NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/303734",
        "RCV": [
          "RCV000275394",
          "RCV000330527",
          "RCV000369920",
          "RCV002227144"
        ],
        "variationId": 303734
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-17408605-G-A",
        "id": "11-17408605-G-A",
        "variant": "11:17408605 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17408605G>A?assembly=hg19",
        "id": "chr11:g.17408605G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17387058G>A?assembly=hg38",
        "id": "chr11:g.17387058G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/114215135",
        "rs": 114215135
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17408605-G-A?dataset=gnomad_r2_1",
        "id": "11-17408605-G-A",
        "variant": "11:17408605 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17387058-G-A?dataset=gnomad_r3",
        "id": "11-17387058-G-A",
        "variant": "11:17387058 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17387058-G-A?dataset=gnomad_r4",
        "id": "11-17387058-G-A",
        "variant": "11:17387058 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17387058,
          "referenceAllele": "G",
          "start": 17387057
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17387058G>A",
        "CM000673.2:g.17387058G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17408605,
          "referenceAllele": "G",
          "start": 17408604
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17408605G>A",
        "CM000673.1:g.17408605G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 17365181,
          "referenceAllele": "G",
          "start": 17365180
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17365181G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6602,
          "referenceAllele": "C",
          "start": 6601
        }
      ],
      "hgvs": [
        "NG_012446.1:g.6602C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682350.1:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508090.1:p.Thr258Met",
        "hgvsWellDefined": "ENSP00000508090.1:p.Thr258Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "referenceAllele": "C",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682764.1:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506780.1:p.Thr258Met",
        "hgvsWellDefined": "ENSP00000506780.1:p.Thr258Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.5:c.1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Thr345Met",
        "hgvsWellDefined": "ENSP00000345708.4:p.Thr345Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.1034C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.1034C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Thr345Met"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Thr345Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.4:c.1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Thr345Met",
        "hgvsWellDefined": "ENSP00000345708.4:p.Thr345Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000528731.1:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434755.1:p.Thr258Met",
        "hgvsWellDefined": "ENSP00000434755.1:p.Thr258Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645378032",
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.3:c.1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Thr345Met",
        "hgvsWellDefined": "NP_000516.3:p.Thr345Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826030192",
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.1:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Thr258Met",
        "hgvsWellDefined": "NP_001159762.1:p.Thr258Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.2:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Thr258Met",
        "hgvsWellDefined": "XP_006718289.1:p.Thr258Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XR_930867.1:n.1192C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.3:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Thr258Met",
        "hgvsWellDefined": "XP_006718289.1:p.Thr258Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_017017680.1:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873169.1:p.Thr258Met",
        "hgvsWellDefined": "XP_016873169.1:p.Thr258Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826030192",
      "coordinates": [
        {
          "allele": "T",
          "end": 962,
          "referenceAllele": "C",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.2:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Thr258Met",
        "hgvsWellDefined": "NP_001159762.1:p.Thr258Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828710549",
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377296.1:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364225.1:p.Thr258Met",
        "hgvsWellDefined": "NP_001364225.1:p.Thr258Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828710774",
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377297.1:c.773C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364226.1:p.Thr258Met",
        "hgvsWellDefined": "NP_001364226.1:p.Thr258Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645378032",
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.4:c.1034C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Thr345Met",
        "hgvsWellDefined": "NP_000516.3:p.Thr345Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.1034C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.1034C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Thr345Met"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Thr345Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}