{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1007372",
  "communityStandardTitle": [
    "NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1838161[alleleid]",
        "alleleId": 1838161,
        "preferredName": "NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1778229",
        "RCV": [
          "RCV002406227",
          "RCV003100793",
          "RCV003482410"
        ],
        "variationId": 1778229
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-112319718-G-A",
        "id": "1-112319718-G-A",
        "variant": "1:112319718 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.112319718G>A?assembly=hg19",
        "id": "chr1:g.112319718G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.111777096G>A?assembly=hg38",
        "id": "chr1:g.111777096G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139901716",
        "rs": 139901716
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-112319718-G-A?dataset=gnomad_r2_1",
        "id": "1-112319718-G-A",
        "variant": "1:112319718 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-111777096-G-A?dataset=gnomad_r3",
        "id": "1-111777096-G-A",
        "variant": "1:111777096 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-111777096-G-A?dataset=gnomad_r4",
        "id": "1-111777096-G-A",
        "variant": "1:111777096 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 111777096,
          "referenceAllele": "G",
          "start": 111777095
        }
      ],
      "hgvs": [
        "NC_000001.11:g.111777096G>A",
        "CM000663.2:g.111777096G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 112319718,
          "referenceAllele": "G",
          "start": 112319717
        }
      ],
      "hgvs": [
        "NC_000001.10:g.112319718G>A",
        "CM000663.1:g.112319718G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 112121241,
          "referenceAllele": "G",
          "start": 112121240
        }
      ],
      "hgvs": [
        "NC_000001.9:g.112121241G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217060,
          "referenceAllele": "C",
          "start": 217059
        }
      ],
      "hgvs": [
        "NG_032011.2:g.217060C>T",
        "LRG_445:g.217060C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2330,
          "referenceAllele": "C",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000703640.1:n.2330C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1932,
          "referenceAllele": "C",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000302127.5:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306923.4:p.Arg566Cys",
        "hgvsWellDefined": "ENSP00000306923.4:p.Arg566Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302127.5:c.1696C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378969.1:c.1696C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306923.4:p.Arg566Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001365898.1:p.Arg566Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2119,
          "referenceAllele": "C",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000302127.4:c.1639C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306923.3:p.Arg547Cys",
        "hgvsWellDefined": "ENSP00000306923.3:p.Arg547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2176,
          "referenceAllele": "C",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000315987.6:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319591.2:p.Arg566Cys",
        "hgvsWellDefined": "ENSP00000319591.2:p.Arg566Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1709,
          "referenceAllele": "C",
          "start": 1708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000369697.5:c.1639C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358711.1:p.Arg547Cys",
        "hgvsWellDefined": "ENSP00000358711.1:p.Arg547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580303578",
      "coordinates": [
        {
          "allele": "T",
          "end": 2176,
          "referenceAllele": "C",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_004980.4:c.1696C>T",
        "LRG_445t1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004971.2:p.Arg566Cys",
        "hgvsWellDefined": "NP_004971.2:p.Arg566Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830348788",
      "coordinates": [
        {
          "allele": "T",
          "end": 2119,
          "referenceAllele": "C",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_172198.2:c.1639C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_751948.1:p.Arg547Cys",
        "hgvsWellDefined": "NP_751948.1:p.Arg547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1840,
          "referenceAllele": "C",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_005270851.3:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270908.1:p.Arg566Cys",
        "hgvsWellDefined": "XP_005270908.1:p.Arg566Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2100,
          "referenceAllele": "C",
          "start": 2099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710629.2:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710692.1:p.Arg566Cys",
        "hgvsWellDefined": "XP_006710692.1:p.Arg566Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1783,
          "referenceAllele": "C",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710630.2:c.1639C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710693.1:p.Arg547Cys",
        "hgvsWellDefined": "XP_006710693.1:p.Arg547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1662,
          "endIntronDirection": "-",
          "endIntronOffset": 817,
          "referenceAllele": "C",
          "start": 1662,
          "startIntronDirection": "-",
          "startIntronOffset": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710631.2:c.1519-818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710694.1:n.1519-818C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_005270851.4:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270908.1:p.Arg566Cys",
        "hgvsWellDefined": "XP_005270908.1:p.Arg566Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710629.4:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710692.1:p.Arg566Cys",
        "hgvsWellDefined": "XP_006710692.1:p.Arg566Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1784,
          "referenceAllele": "C",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710630.3:c.1639C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710693.1:p.Arg547Cys",
        "hgvsWellDefined": "XP_006710693.1:p.Arg547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1663,
          "endIntronDirection": "-",
          "endIntronOffset": 817,
          "referenceAllele": "C",
          "start": 1663,
          "startIntronDirection": "-",
          "startIntronOffset": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710631.3:c.1519-818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710694.1:n.1519-818C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2093,
          "referenceAllele": "C",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_017001244.2:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856733.1:p.Arg566Cys",
        "hgvsWellDefined": "XP_016856733.1:p.Arg566Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828801232",
      "coordinates": [
        {
          "allele": "T",
          "end": 1932,
          "referenceAllele": "C",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_001378969.1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365898.1:p.Arg566Cys",
        "hgvsWellDefined": "NP_001365898.1:p.Arg566Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721868",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302127.5:c.1696C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378969.1:c.1696C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306923.4:p.Arg566Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001365898.1:p.Arg566Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828801629",
      "coordinates": [
        {
          "allele": "T",
          "end": 1875,
          "referenceAllele": "C",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_001378970.1:c.1639C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365899.1:p.Arg547Cys",
        "hgvsWellDefined": "NP_001365899.1:p.Arg547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580303578",
      "coordinates": [
        {
          "allele": "T",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_004980.5:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004971.2:p.Arg566Cys",
        "hgvsWellDefined": "NP_004971.2:p.Arg566Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830348788",
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_172198.3:c.1639C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_751948.1:p.Arg547Cys",
        "hgvsWellDefined": "NP_751948.1:p.Arg547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729539"
    }
  ],
  "type": "nucleotide"
}