{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379773062",
  "communityStandardTitle": [
    "NM_000525.4(KCNJ11):c.521C>A (p.Ala174Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671127[alleleid]",
        "alleleId": 1671127,
        "preferredName": "NM_000525.4(KCNJ11):c.521C>A (p.Ala174Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679207",
        "RCV": [
          "RCV002226804",
          "RCV002304239"
        ],
        "variationId": 1679207
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17409118G>T?assembly=hg19",
        "id": "chr11:g.17409118G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17387571G>T?assembly=hg38",
        "id": "chr11:g.17387571G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783670",
        "rs": 587783670
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17409118-G-T?dataset=gnomad_r2_1",
        "id": "11-17409118-G-T",
        "variant": "11:17409118 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17387571-G-T?dataset=gnomad_r4",
        "id": "11-17387571-G-T",
        "variant": "11:17387571 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17387571,
          "referenceAllele": "G",
          "start": 17387570
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17387571G>T",
        "CM000673.2:g.17387571G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17409118,
          "referenceAllele": "G",
          "start": 17409117
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17409118G>T",
        "CM000673.1:g.17409118G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17365694,
          "referenceAllele": "G",
          "start": 17365693
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17365694G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6089,
          "referenceAllele": "C",
          "start": 6088
        }
      ],
      "hgvs": [
        "NG_012446.1:g.6089C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "C",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682350.1:c.260C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508090.1:p.Ala87Asp",
        "hgvsWellDefined": "ENSP00000508090.1:p.Ala87Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 330,
          "referenceAllele": "C",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682764.1:c.260C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506780.1:p.Ala87Asp",
        "hgvsWellDefined": "ENSP00000506780.1:p.Ala87Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "referenceAllele": "C",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.5:c.521C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Ala174Asp",
        "hgvsWellDefined": "ENSP00000345708.4:p.Ala174Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.521C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.521C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Ala174Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Ala174Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "referenceAllele": "C",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.4:c.521C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Ala174Asp",
        "hgvsWellDefined": "ENSP00000345708.4:p.Ala174Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260991"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "referenceAllele": "C",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000526912.1:c.260C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432729.1:p.Ala87Asp",
        "hgvsWellDefined": "ENSP00000432729.1:p.Ala87Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000528731.1:c.260C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434755.1:p.Ala87Asp",
        "hgvsWellDefined": "ENSP00000434755.1:p.Ala87Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825208150",
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "referenceAllele": "C",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.3:c.521C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Ala174Asp",
        "hgvsWellDefined": "NP_000516.3:p.Ala174Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826030033",
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.1:c.260C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Ala87Asp",
        "hgvsWellDefined": "NP_001159762.1:p.Ala87Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "referenceAllele": "C",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.2:c.260C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Ala87Asp",
        "hgvsWellDefined": "XP_006718289.1:p.Ala87Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XR_930867.1:n.679C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.3:c.260C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Ala87Asp",
        "hgvsWellDefined": "XP_006718289.1:p.Ala87Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "referenceAllele": "C",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_017017680.1:c.260C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873169.1:p.Ala87Asp",
        "hgvsWellDefined": "XP_016873169.1:p.Ala87Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826030033",
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "C",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.2:c.260C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Ala87Asp",
        "hgvsWellDefined": "NP_001159762.1:p.Ala87Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828710384",
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377296.1:c.260C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364225.1:p.Ala87Asp",
        "hgvsWellDefined": "NP_001364225.1:p.Ala87Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573214817",
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "C",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377297.1:c.260C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364226.1:p.Ala87Asp",
        "hgvsWellDefined": "NP_001364226.1:p.Ala87Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825208150",
      "coordinates": [
        {
          "allele": "A",
          "end": 1089,
          "referenceAllele": "C",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.4:c.521C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Ala174Asp",
        "hgvsWellDefined": "NP_000516.3:p.Ala174Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.521C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.521C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Ala174Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Ala174Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}