{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379769693",
  "communityStandardTitle": [
    "NM_000525.4(KCNJ11):c.947T>G (p.Val316Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17408692A>C?assembly=hg19",
        "id": "chr11:g.17408692A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17387145A>C?assembly=hg38",
        "id": "chr11:g.17387145A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 17387145,
          "referenceAllele": "A",
          "start": 17387144
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17387145A>C",
        "CM000673.2:g.17387145A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 17408692,
          "referenceAllele": "A",
          "start": 17408691
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17408692A>C",
        "CM000673.1:g.17408692A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 17365268,
          "referenceAllele": "A",
          "start": 17365267
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17365268A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6515,
          "referenceAllele": "T",
          "start": 6514
        }
      ],
      "hgvs": [
        "NG_012446.1:g.6515T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 772,
          "referenceAllele": "T",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682350.1:c.686T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508090.1:p.Val229Gly",
        "hgvsWellDefined": "ENSP00000508090.1:p.Val229Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 756,
          "referenceAllele": "T",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682764.1:c.686T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506780.1:p.Val229Gly",
        "hgvsWellDefined": "ENSP00000506780.1:p.Val229Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1515,
          "referenceAllele": "T",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.5:c.947T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Val316Gly",
        "hgvsWellDefined": "ENSP00000345708.4:p.Val316Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.947T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.947T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Val316Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Val316Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1515,
          "referenceAllele": "T",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.4:c.947T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Val316Gly",
        "hgvsWellDefined": "ENSP00000345708.4:p.Val316Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000528731.1:c.686T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434755.1:p.Val229Gly",
        "hgvsWellDefined": "ENSP00000434755.1:p.Val229Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1515,
          "referenceAllele": "T",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.3:c.947T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Val316Gly",
        "hgvsWellDefined": "NP_000516.3:p.Val316Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.1:c.686T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Val229Gly",
        "hgvsWellDefined": "NP_001159762.1:p.Val229Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "referenceAllele": "T",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.2:c.686T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Val229Gly",
        "hgvsWellDefined": "XP_006718289.1:p.Val229Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072527"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1105,
          "referenceAllele": "T",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XR_930867.1:n.1105T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126994"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1144,
          "referenceAllele": "T",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.3:c.686T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Val229Gly",
        "hgvsWellDefined": "XP_006718289.1:p.Val229Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539567"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 740,
          "referenceAllele": "T",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_017017680.1:c.686T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873169.1:p.Val229Gly",
        "hgvsWellDefined": "XP_016873169.1:p.Val229Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "T",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.2:c.686T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Val229Gly",
        "hgvsWellDefined": "NP_001159762.1:p.Val229Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "referenceAllele": "T",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377296.1:c.686T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364225.1:p.Val229Gly",
        "hgvsWellDefined": "NP_001364225.1:p.Val229Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695080"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1019,
          "referenceAllele": "T",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377297.1:c.686T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364226.1:p.Val229Gly",
        "hgvsWellDefined": "NP_001364226.1:p.Val229Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1515,
          "referenceAllele": "T",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.4:c.947T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Val316Gly",
        "hgvsWellDefined": "NP_000516.3:p.Val316Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.947T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.947T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Val316Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Val316Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}