{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA256861",
  "communityStandardTitle": [
    "NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3797397",
        "active": true,
        "id": "COSM3797397"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28512[alleleid]",
        "alleleId": 28512,
        "preferredName": "NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13473",
        "RCV": [
          "RCV000992229",
          "RCV000014415"
        ],
        "variationId": 13473
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50826951C>T?assembly=hg19",
        "id": "chr19:g.50826951C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.50323694C>T?assembly=hg38",
        "id": "chr19:g.50323694C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894699",
        "rs": 104894699
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50323694,
          "referenceAllele": "C",
          "start": 50323693
        }
      ],
      "hgvs": [
        "NC_000019.10:g.50323694C>T",
        "CM000681.2:g.50323694C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 50826951,
          "referenceAllele": "C",
          "start": 50826950
        }
      ],
      "hgvs": [
        "NC_000019.9:g.50826951C>T",
        "CM000681.1:g.50826951C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 55518763,
          "referenceAllele": "C",
          "start": 55518762
        }
      ],
      "hgvs": [
        "NC_000019.8:g.55518763C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10684,
          "referenceAllele": "G",
          "start": 10683
        }
      ],
      "hgvs": [
        "NG_008134.2:g.10684G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000880"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1554,
          "referenceAllele": "G",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "ENST00000477616.2:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434241.1:p.Arg420His",
        "hgvsWellDefined": "ENSP00000434241.1:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757227",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000477616.2:c.1259G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004977.3:c.1259G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434241.1:p.Arg420His"
          },
          "RefSeq": {
            "hgvs": "NP_004968.2:p.Arg420His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1425,
          "referenceAllele": "G",
          "start": 1424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "ENST00000670667.1:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499301.1:p.Arg420His",
        "hgvsWellDefined": "ENSP00000499301.1:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1423,
          "referenceAllele": "G",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "ENST00000376959.6:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366158.2:p.Arg420His",
        "hgvsWellDefined": "ENSP00000366158.2:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47,
          "endIntronDirection": "-",
          "endIntronOffset": 2909,
          "referenceAllele": "G",
          "start": 47,
          "startIntronDirection": "-",
          "startIntronOffset": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "ENST00000474951.1:c.-74-2910G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432438.1:n.-74-2910G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1554,
          "referenceAllele": "G",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "ENST00000477616.1:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434241.1:p.Arg420His",
        "hgvsWellDefined": "ENSP00000434241.1:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS318389"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098845",
      "coordinates": [
        {
          "allele": "A",
          "end": 1554,
          "referenceAllele": "G",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "NM_004977.2:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004968.2:p.Arg420His",
        "hgvsWellDefined": "NP_004968.2:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47,
          "endIntronDirection": "-",
          "endIntronOffset": 2909,
          "referenceAllele": "G",
          "start": 47,
          "startIntronDirection": "-",
          "startIntronOffset": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "NR_110912.1:n.48-2910G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "XM_006723203.2:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723266.1:p.Arg420His",
        "hgvsWellDefined": "XP_006723266.1:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "XM_011526925.1:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525227.1:p.Arg420His",
        "hgvsWellDefined": "XP_011525227.1:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "XM_011526926.1:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525228.1:p.Arg420His",
        "hgvsWellDefined": "XP_011525228.1:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "XM_011526927.1:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525229.1:p.Arg420His",
        "hgvsWellDefined": "XP_011525229.1:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094026"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "XM_011526928.1:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525230.1:p.Arg420His",
        "hgvsWellDefined": "XP_011525230.1:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094027"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828472156",
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "NM_001372305.1:c.1031G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001359234.1:p.Arg344His",
        "hgvsWellDefined": "NP_001359234.1:p.Arg344His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA098845",
      "coordinates": [
        {
          "allele": "A",
          "end": 1554,
          "referenceAllele": "G",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "NM_004977.3:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004968.2:p.Arg420His",
        "hgvsWellDefined": "NP_004968.2:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000477616.2:c.1259G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004977.3:c.1259G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434241.1:p.Arg420His"
          },
          "RefSeq": {
            "hgvs": "NP_004968.2:p.Arg420His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 68,
          "endIntronDirection": "-",
          "endIntronOffset": 2909,
          "referenceAllele": "G",
          "start": 68,
          "startIntronDirection": "-",
          "startIntronOffset": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006235",
      "geneNCBI_id": 3748,
      "geneSymbol": "KCNC3",
      "hgvs": [
        "NR_110912.2:n.69-2910G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703159"
    }
  ],
  "type": "nucleotide"
}