{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2484836194",
  "communityStandardTitle": [
    "NM_172362.3(KCNH1):c.1062A= (p.Lys354=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794817",
        "rs": 1064794817
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 210920040,
          "referenceAllele": "T",
          "start": 210920039
        }
      ],
      "hgvs": [
        "NC_000001.11:g.210920040T=",
        "CM000663.2:g.210920040T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 211093382,
          "referenceAllele": "T",
          "start": 211093381
        }
      ],
      "hgvs": [
        "NC_000001.10:g.211093382T=",
        "CM000663.1:g.211093382T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 209160005,
          "referenceAllele": "T",
          "start": 209160004
        }
      ],
      "hgvs": [
        "NC_000001.9:g.209160005T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 219076,
          "referenceAllele": "A",
          "start": 219075
        }
      ],
      "hgvs": [
        "NG_029777.1:g.219076A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 219076,
          "referenceAllele": "A",
          "start": 219075
        }
      ],
      "hgvs": [
        "NG_029777.2:g.219076A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673814"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "referenceAllele": "A",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000271751.10:c.1062A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000271751.4:p.Lys354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743210",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000271751.10:c.1062A="
          },
          "RefSeq": {
            "hgvs": "NM_172362.3:c.1062A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000271751.4:p.Lys354="
          },
          "RefSeq": {
            "hgvs": "NP_758872.1:p.Lys354="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1165,
          "referenceAllele": "A",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000367007.5:c.981A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355974.5:p.Lys327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "referenceAllele": "A",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000638357.1:c.395A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1208,
          "referenceAllele": "A",
          "start": 1207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000638498.1:c.1062A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490983.1:p.Lys354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1191,
          "referenceAllele": "A",
          "start": 1190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000638960.1:c.981A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492302.1:p.Lys327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1152,
          "endIntronDirection": "-",
          "endIntronOffset": 58845,
          "referenceAllele": "A",
          "start": 1152,
          "startIntronDirection": "-",
          "startIntronOffset": 58846
        }
      ],
      "hgvs": [
        "ENST00000638983.1:c.952-58846A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492641.1:n.952-58846A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764802"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 430,
          "referenceAllele": "A",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000639385.1:n.430A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "referenceAllele": "A",
          "start": 984
        }
      ],
      "hgvs": [
        "ENST00000639602.1:c.852A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492303.1:p.Lys284="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "referenceAllele": "A",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000639754.1:n.1265A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1201,
          "referenceAllele": "A",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000639952.1:c.981A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492697.1:p.Lys327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "endIntronDirection": "-",
          "endIntronOffset": 115873,
          "referenceAllele": "A",
          "start": 310,
          "startIntronDirection": "-",
          "startIntronOffset": 115874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000640044.1:c.311-115874A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491434.1:n.311-115874A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1101,
          "endIntronDirection": "+",
          "endIntronOffset": 98824,
          "referenceAllele": "A",
          "start": 1101,
          "startIntronDirection": "+",
          "startIntronOffset": 98823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000640243.1:c.951+98824A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492803.1:n.951+98824A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1235,
          "endIntronDirection": "+",
          "endIntronOffset": 98743,
          "referenceAllele": "A",
          "start": 1235,
          "startIntronDirection": "+",
          "startIntronOffset": 98742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000640522.1:c.1032+98743A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491019.1:n.1032+98743A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "A",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000640528.1:c.981A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491725.1:p.Lys327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 310,
          "endIntronDirection": "-",
          "endIntronOffset": 144495,
          "referenceAllele": "A",
          "start": 310,
          "startIntronDirection": "-",
          "startIntronOffset": 144496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000640566.1:c.311-144496A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491302.1:n.311-144496A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1182,
          "referenceAllele": "A",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000640710.1:c.981A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492513.1:p.Lys327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1083,
          "referenceAllele": "A",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000640890.1:n.1083A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765718"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1090,
          "referenceAllele": "A",
          "start": 1089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000271751.8:c.1062A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000271751.4:p.Lys354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "A",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "ENST00000367007.4:c.981A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355974.4:p.Lys327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933708",
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "A",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "NM_002238.3:c.981A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002229.1:p.Lys327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "A",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "NM_172362.2:c.1062A="
      ],
      "proteinEffect": {
        "hgvs": "NP_758872.1:p.Lys354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82,
          "referenceAllele": "A",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "XM_011509514.1:c.-115A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507816.1:n.-115A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "A",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "XM_017001246.1:c.-115A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856735.1:n.-115A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1265,
          "referenceAllele": "A",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "NM_172362.3:c.1062A="
      ],
      "proteinEffect": {
        "hgvs": "NP_758872.1:p.Lys354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000271751.10:c.1062A="
          },
          "RefSeq": {
            "hgvs": "NM_172362.3:c.1062A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000271751.4:p.Lys354="
          },
          "RefSeq": {
            "hgvs": "NP_758872.1:p.Lys354="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933708",
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "A",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "NM_002238.4:c.981A="
      ],
      "proteinEffect": {
        "hgvs": "NP_002229.1:p.Lys327="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695487"
    }
  ],
  "type": "nucleotide"
}