{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341820927",
  "communityStandardTitle": [
    "NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1305846[alleleid]",
        "alleleId": 1305846,
        "preferredName": "NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1315586",
        "RCV": [
          "RCV001755248",
          "RCV002272493"
        ],
        "variationId": 1315586
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.112524366A>C?assembly=hg19",
        "id": "chr1:g.112524366A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.111981744A>C?assembly=hg38",
        "id": "chr1:g.111981744A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2101995228",
        "rs": 2101995228
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 111981744,
          "referenceAllele": "A",
          "start": 111981743
        }
      ],
      "hgvs": [
        "NC_000001.11:g.111981744A>C",
        "CM000663.2:g.111981744A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 112524366,
          "referenceAllele": "A",
          "start": 112524365
        }
      ],
      "hgvs": [
        "NC_000001.10:g.112524366A>C",
        "CM000663.1:g.112524366A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 112325889,
          "referenceAllele": "A",
          "start": 112325888
        }
      ],
      "hgvs": [
        "NC_000001.9:g.112325889A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12412,
          "referenceAllele": "T",
          "start": 12411
        }
      ],
      "hgvs": [
        "NG_032011.2:g.12412T>G",
        "LRG_445:g.12412T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000703641.1:n.1482T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911842"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1288,
          "referenceAllele": "T",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000703642.1:n.1288T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1285,
          "referenceAllele": "T",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000703643.1:n.1285T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911844"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1219,
          "referenceAllele": "T",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000302127.5:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306923.4:p.Leu328Arg",
        "hgvsWellDefined": "ENSP00000306923.4:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302127.5:c.983T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001378969.1:c.983T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306923.4:p.Leu328Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001365898.1:p.Leu328Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1463,
          "referenceAllele": "T",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000302127.4:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306923.3:p.Leu328Arg",
        "hgvsWellDefined": "ENSP00000306923.3:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1463,
          "referenceAllele": "T",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000315987.6:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319591.2:p.Leu328Arg",
        "hgvsWellDefined": "ENSP00000319591.2:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "T",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "ENST00000369697.5:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358711.1:p.Leu328Arg",
        "hgvsWellDefined": "ENSP00000358711.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829562550",
      "coordinates": [
        {
          "allele": "G",
          "end": 1463,
          "referenceAllele": "T",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_004980.4:c.983T>G",
        "LRG_445t1:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004971.2:p.Leu328Arg",
        "hgvsWellDefined": "NP_004971.2:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030111"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573099887",
      "coordinates": [
        {
          "allele": "G",
          "end": 1463,
          "referenceAllele": "T",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_172198.2:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_751948.1:p.Leu328Arg",
        "hgvsWellDefined": "NP_751948.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_005270851.3:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270908.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_005270908.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "T",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710629.2:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710692.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_006710692.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710630.2:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710693.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_006710693.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710631.2:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710694.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_006710694.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710632.2:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710695.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_006710695.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_011541425.1:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539727.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_011539727.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_011541426.1:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539728.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_011539728.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108363"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_011541427.1:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539729.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_011539729.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "T",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_011541428.1:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539730.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_011539730.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_005270851.4:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270908.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_005270908.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1288,
          "referenceAllele": "T",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710629.4:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710692.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_006710692.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710630.3:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710693.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_006710693.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710631.3:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710694.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_006710694.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_006710632.3:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710695.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_006710695.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_011541425.3:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539727.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_011539727.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_011541426.2:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539728.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_011539728.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_011541427.3:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539729.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_011539729.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "T",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_011541428.2:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539730.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_011539730.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554426"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1380,
          "referenceAllele": "T",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_017001244.2:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856733.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_016856733.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1288,
          "referenceAllele": "T",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "XM_017001245.2:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856734.1:p.Leu328Arg",
        "hgvsWellDefined": "XP_016856734.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828801075",
      "coordinates": [
        {
          "allele": "G",
          "end": 1219,
          "referenceAllele": "T",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_001378969.1:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365898.1:p.Leu328Arg",
        "hgvsWellDefined": "NP_001365898.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721868",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302127.5:c.983T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001378969.1:c.983T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306923.4:p.Leu328Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001365898.1:p.Leu328Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828801481",
      "coordinates": [
        {
          "allele": "G",
          "end": 1219,
          "referenceAllele": "T",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_001378970.1:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365899.1:p.Leu328Arg",
        "hgvsWellDefined": "NP_001365899.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829562550",
      "coordinates": [
        {
          "allele": "G",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_004980.5:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004971.2:p.Leu328Arg",
        "hgvsWellDefined": "NP_004971.2:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573099887",
      "coordinates": [
        {
          "allele": "G",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NM_172198.3:c.983T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_751948.1:p.Leu328Arg",
        "hgvsWellDefined": "NP_751948.1:p.Leu328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729539"
    }
  ],
  "type": "nucleotide"
}