{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA005683",
  "communityStandardTitle": [
    "NM_000238.4(KCNH2):c.1853C>G (p.Thr618Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78192[alleleid]",
        "alleleId": 78192,
        "preferredName": "NM_000238.4(KCNH2):c.1853C>G (p.Thr618Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67296",
        "RCV": [
          "RCV000058014"
        ],
        "variationId": 67296
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.150648628G>C?assembly=hg19",
        "id": "chr7:g.150648628G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.150951540G>C?assembly=hg38",
        "id": "chr7:g.150951540G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199472947",
        "rs": 199472947
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150951540,
          "referenceAllele": "G",
          "start": 150951539
        }
      ],
      "hgvs": [
        "NC_000007.14:g.150951540G>C",
        "CM000669.2:g.150951540G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150648628,
          "referenceAllele": "G",
          "start": 150648627
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150648628G>C",
        "CM000669.1:g.150648628G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150279561,
          "referenceAllele": "G",
          "start": 150279560
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150279561G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31387,
          "referenceAllele": "C",
          "start": 31386
        }
      ],
      "hgvs": [
        "NG_008916.1:g.31387C>G",
        "LRG_288:g.31387C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001295"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1151,
          "referenceAllele": "C",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000461280.2:n.1151C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2686,
          "referenceAllele": "C",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000684241.1:n.2686C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2261,
          "referenceAllele": "C",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.10:c.1853C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Thr618Ser",
        "hgvsWellDefined": "ENSP00000262186.5:p.Thr618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.1853C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.1853C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Thr618Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Thr618Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.9:c.833C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Thr278Ser",
        "hgvsWellDefined": "ENSP00000328531.4:p.Thr278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2255,
          "referenceAllele": "C",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.9:c.1853C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Thr618Ser",
        "hgvsWellDefined": "ENSP00000262186.5:p.Thr618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1236,
          "referenceAllele": "C",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.8:c.833C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Thr278Ser",
        "hgvsWellDefined": "ENSP00000328531.4:p.Thr278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1834,
          "referenceAllele": "C",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000430723.4:c.1505C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387657.4:p.Thr502Ser",
        "hgvsWellDefined": "ENSP00000387657.4:p.Thr502Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "C",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000461280.1:n.1140C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1158,
          "referenceAllele": "C",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000473610.5:n.1158C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315313"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2076,
          "referenceAllele": "C",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000532957.5:n.2076C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA328948",
      "coordinates": [
        {
          "allele": "G",
          "end": 2254,
          "referenceAllele": "C",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.3:c.1853C>G",
        "LRG_288t1:c.1853C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Thr618Ser",
        "hgvsWellDefined": "NP_000229.1:p.Thr618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826275160",
      "coordinates": [
        {
          "allele": "G",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_001204798.1:c.833C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191727.1:p.Thr278Ser",
        "hgvsWellDefined": "NP_001191727.1:p.Thr278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA328949",
      "coordinates": [
        {
          "allele": "G",
          "end": 2254,
          "referenceAllele": "C",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172056.2:c.1853C>G",
        "LRG_288t2:c.1853C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_742053.1:p.Thr618Ser",
        "hgvsWellDefined": "NP_742053.1:p.Thr618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042625"
    },
    {
      "@id": "http://reg.genome.network/allele/PA328947",
      "coordinates": [
        {
          "allele": "G",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.2:c.833C>G",
        "LRG_288t3:c.833C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Thr278Ser",
        "hgvsWellDefined": "NP_742054.1:p.Thr278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1568,
          "referenceAllele": "C",
          "start": 1567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.1:c.1553C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Thr518Ser",
        "hgvsWellDefined": "XP_011514487.1:p.Thr518Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.1:c.1853C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Thr618Ser",
        "hgvsWellDefined": "XP_011514488.1:p.Thr618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1665,
          "referenceAllele": "C",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.2:c.1553C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Thr518Ser",
        "hgvsWellDefined": "XP_011514487.1:p.Thr518Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1927,
          "referenceAllele": "C",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516186.3:c.1853C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Thr618Ser",
        "hgvsWellDefined": "XP_011514488.1:p.Thr618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544061"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2335,
          "referenceAllele": "C",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012195.1:c.1703C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867684.1:p.Thr568Ser",
        "hgvsWellDefined": "XP_016867684.1:p.Thr568Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1795,
          "referenceAllele": "C",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012196.1:c.1676C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867685.1:p.Thr559Ser",
        "hgvsWellDefined": "XP_016867685.1:p.Thr559Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA328948",
      "coordinates": [
        {
          "allele": "G",
          "end": 2261,
          "referenceAllele": "C",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.4:c.1853C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Thr618Ser",
        "hgvsWellDefined": "NP_000229.1:p.Thr618Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.1853C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.1853C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Thr618Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Thr618Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826275160",
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_001204798.2:c.833C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191727.1:p.Thr278Ser",
        "hgvsWellDefined": "NP_001191727.1:p.Thr278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA328947",
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.3:c.833C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Thr278Ser",
        "hgvsWellDefined": "NP_742054.1:p.Thr278Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729522"
    }
  ],
  "type": "nucleotide"
}