{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008277",
  "communityStandardTitle": [
    "NM_000238.4(KCNH2):c.3404G>A (p.Arg1135His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78389[alleleid]",
        "alleleId": 78389,
        "preferredName": "NM_000238.4(KCNH2):c.3404G>A (p.Arg1135His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67493",
        "RCV": [
          "RCV000058222",
          "RCV002223783",
          "RCV002514289"
        ],
        "variationId": 67493
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.150642529C>T?assembly=hg19",
        "id": "chr7:g.150642529C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.150945441C>T?assembly=hg38",
        "id": "chr7:g.150945441C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199473547",
        "rs": 199473547
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-150642529-C-T?dataset=gnomad_r2_1",
        "id": "7-150642529-C-T",
        "variant": "7:150642529 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-150945441-C-T?dataset=gnomad_r3",
        "id": "7-150945441-C-T",
        "variant": "7:150945441 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-150945441-C-T?dataset=gnomad_r4",
        "id": "7-150945441-C-T",
        "variant": "7:150945441 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 150945441,
          "referenceAllele": "C",
          "start": 150945440
        }
      ],
      "hgvs": [
        "NC_000007.14:g.150945441C>T",
        "CM000669.2:g.150945441C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 150642529,
          "referenceAllele": "C",
          "start": 150642528
        }
      ],
      "hgvs": [
        "NC_000007.13:g.150642529C>T",
        "CM000669.1:g.150642529C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 150273462,
          "referenceAllele": "C",
          "start": 150273461
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150273462C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37486,
          "referenceAllele": "G",
          "start": 37485
        }
      ],
      "hgvs": [
        "NG_008916.1:g.37486G>A",
        "LRG_288:g.37486G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001295"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4237,
          "referenceAllele": "G",
          "start": 4236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000684241.1:n.4237G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3812,
          "referenceAllele": "G",
          "start": 3811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.10:c.3404G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Arg1135His",
        "hgvsWellDefined": "ENSP00000262186.5:p.Arg1135His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.3404G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.3404G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Arg1135His"
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Arg1135His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2685,
          "referenceAllele": "G",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.9:c.2384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Arg795His",
        "hgvsWellDefined": "ENSP00000328531.4:p.Arg795His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3806,
          "referenceAllele": "G",
          "start": 3805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000262186.9:c.3404G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262186.5:p.Arg1135His",
        "hgvsWellDefined": "ENSP00000262186.5:p.Arg1135His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247143"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2787,
          "referenceAllele": "G",
          "start": 2786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "ENST00000330883.8:c.2384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000328531.4:p.Arg795His",
        "hgvsWellDefined": "ENSP00000328531.4:p.Arg795His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144993",
      "coordinates": [
        {
          "allele": "A",
          "end": 3805,
          "referenceAllele": "G",
          "start": 3804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.3:c.3404G>A",
        "LRG_288t1:c.3404G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Arg1135His",
        "hgvsWellDefined": "NP_000229.1:p.Arg1135His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144994",
      "coordinates": [
        {
          "allele": "A",
          "end": 2710,
          "referenceAllele": "G",
          "start": 2709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.2:c.2384G>A",
        "LRG_288t3:c.2384G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Arg795His",
        "hgvsWellDefined": "NP_742054.1:p.Arg795His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3119,
          "referenceAllele": "G",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.1:c.3104G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Arg1035His",
        "hgvsWellDefined": "XP_011514487.1:p.Arg1035His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3216,
          "referenceAllele": "G",
          "start": 3215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_011516185.2:c.3104G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Arg1035His",
        "hgvsWellDefined": "XP_011514487.1:p.Arg1035His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3886,
          "referenceAllele": "G",
          "start": 3885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012195.1:c.3254G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867684.1:p.Arg1085His",
        "hgvsWellDefined": "XP_016867684.1:p.Arg1085His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565851"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3346,
          "referenceAllele": "G",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "XM_017012196.1:c.3227G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867685.1:p.Arg1076His",
        "hgvsWellDefined": "XP_016867685.1:p.Arg1076His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA144993",
      "coordinates": [
        {
          "allele": "A",
          "end": 3812,
          "referenceAllele": "G",
          "start": 3811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.4:c.3404G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Arg1135His",
        "hgvsWellDefined": "NP_000229.1:p.Arg1135His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262186.10:c.3404G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000238.4:c.3404G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Arg1135His"
          },
          "RefSeq": {
            "hgvs": "NP_000229.1:p.Arg1135His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA144994",
      "coordinates": [
        {
          "allele": "A",
          "end": 2685,
          "referenceAllele": "G",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_172057.3:c.2384G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_742054.1:p.Arg795His",
        "hgvsWellDefined": "NP_742054.1:p.Arg795His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729522"
    }
  ],
  "type": "nucleotide"
}