{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA204646",
  "communityStandardTitle": [
    "NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205316[alleleid]",
        "alleleId": 205316,
        "preferredName": "NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208671",
        "RCV": [
          "RCV000190682",
          "RCV000277864",
          "RCV000613729"
        ],
        "variationId": 208671
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50826942C>T?assembly=hg19",
        "id": "chr19:g.50826942C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50323685C>T?assembly=hg38",
        "id": "chr19:g.50323685C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797044872",
        "rs": 797044872
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50323685,
          "referenceAllele": "C",
          "start": 50323684
        }
      ],
      "hgvs": [
        "NC_000019.10:g.50323685C>T",
        "CM000681.2:g.50323685C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50826942,
          "referenceAllele": "C",
          "start": 50826941
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50826942C>T",
        "CM000681.1:g.50826942C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55518754,
          "referenceAllele": "C",
          "start": 55518753
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55518754C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10693,
          "referenceAllele": "G",
          "start": 10692
        }
      ],
      "hgvs": [
        "NG_008134.2:g.10693G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000880"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "ENST00000477616.2:c.1268G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434241.1:p.Arg423His",
        "hgvsWellDefined": "ENSP00000434241.1:p.Arg423His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757227",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000477616.2:c.1268G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004977.3:c.1268G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434241.1:p.Arg423His"
          },
          "RefSeq": {
            "hgvs": "NP_004968.2:p.Arg423His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1434,
          "referenceAllele": "G",
          "start": 1433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "ENST00000670667.1:c.1268G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499301.1:p.Arg423His",
        "hgvsWellDefined": "ENSP00000499301.1:p.Arg423His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1432,
          "referenceAllele": "G",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "ENST00000376959.6:c.1268G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366158.2:p.Arg423His",
        "hgvsWellDefined": "ENSP00000366158.2:p.Arg423His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47,
          "endIntronDirection": "-",
          "endIntronOffset": 2900,
          "referenceAllele": "G",
          "start": 47,
          "startIntronDirection": "-",
          "startIntronOffset": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "ENST00000474951.1:c.-74-2901G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432438.1:n.-74-2901G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "ENST00000477616.1:c.1268G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434241.1:p.Arg423His",
        "hgvsWellDefined": "ENSP00000434241.1:p.Arg423His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204647",
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "NM_004977.2:c.1268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004968.2:p.Arg423His",
        "hgvsWellDefined": "NP_004968.2:p.Arg423His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47,
          "endIntronDirection": "-",
          "endIntronOffset": 2900,
          "referenceAllele": "G",
          "start": 47,
          "startIntronDirection": "-",
          "startIntronOffset": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "NR_110912.1:n.48-2901G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "G",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "XM_006723203.2:c.1268G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723266.1:p.Arg423His",
        "hgvsWellDefined": "XP_006723266.1:p.Arg423His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "G",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "XM_011526925.1:c.1268G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525227.1:p.Arg423His",
        "hgvsWellDefined": "XP_011525227.1:p.Arg423His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "G",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "XM_011526926.1:c.1268G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525228.1:p.Arg423His",
        "hgvsWellDefined": "XP_011525228.1:p.Arg423His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "G",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "XM_011526927.1:c.1268G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525229.1:p.Arg423His",
        "hgvsWellDefined": "XP_011525229.1:p.Arg423His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1268,
          "referenceAllele": "G",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "XM_011526928.1:c.1268G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525230.1:p.Arg423His",
        "hgvsWellDefined": "XP_011525230.1:p.Arg423His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828472161",
      "coordinates": [
        {
          "allele": "A",
          "end": 1257,
          "referenceAllele": "G",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "NM_001372305.1:c.1040G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001359234.1:p.Arg347His",
        "hgvsWellDefined": "NP_001359234.1:p.Arg347His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204647",
      "coordinates": [
        {
          "allele": "A",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "NM_004977.3:c.1268G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004968.2:p.Arg423His",
        "hgvsWellDefined": "NP_004968.2:p.Arg423His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000477616.2:c.1268G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004977.3:c.1268G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434241.1:p.Arg423His"
          },
          "RefSeq": {
            "hgvs": "NP_004968.2:p.Arg423His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 68,
          "endIntronDirection": "-",
          "endIntronOffset": 2900,
          "referenceAllele": "G",
          "start": 68,
          "startIntronDirection": "-",
          "startIntronOffset": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "NR_110912.2:n.69-2901G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703159"
    }
  ],
  "type": "nucleotide"
}