{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043105",
  "communityStandardTitle": [
    "NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1027866",
        "active": true,
        "id": "COSM1027866"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360423[alleleid]",
        "alleleId": 360423,
        "preferredName": "NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373805",
        "RCV": [
          "RCV000413312",
          "RCV000699040"
        ],
        "variationId": 373805
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.47991189C>T?assembly=hg19",
        "id": "chr20:g.47991189C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.49374652C>T?assembly=hg38",
        "id": "chr20:g.49374652C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518621",
        "rs": 1057518621
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 49374652,
          "referenceAllele": "C",
          "start": 49374651
        }
      ],
      "hgvs": [
        "NC_000020.11:g.49374652C>T",
        "CM000682.2:g.49374652C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 47991189,
          "referenceAllele": "C",
          "start": 47991188
        }
      ],
      "hgvs": [
        "NC_000020.10:g.47991189C>T",
        "CM000682.1:g.47991189C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 47424596,
          "referenceAllele": "C",
          "start": 47424595
        }
      ],
      "hgvs": [
        "NC_000020.9:g.47424596C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112993,
          "referenceAllele": "G",
          "start": 112992
        }
      ],
      "hgvs": [
        "NG_041781.1:g.112993G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112993,
          "referenceAllele": "G",
          "start": 112992
        }
      ],
      "hgvs": [
        "NG_041781.2:g.112993G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616371"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "ENST00000371741.6:c.908G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360806.3:p.Arg303Gln",
        "hgvsWellDefined": "ENSP00000360806.3:p.Arg303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750855",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371741.6:c.908G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004975.4:c.908G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360806.3:p.Arg303Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004966.1:p.Arg303Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 75268,
          "referenceAllele": "G",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 75269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "ENST00000635878.1:c.97-75269G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489908.1:n.97-75269G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "endIntronDirection": "+",
          "endIntronOffset": 42628,
          "referenceAllele": "C",
          "start": 206,
          "startIntronDirection": "+",
          "startIntronOffset": 42627
        }
      ],
      "hgvs": [
        "ENST00000637341.1:n.206+42628C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "ENST00000371741.5:c.908G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360806.3:p.Arg303Gln",
        "hgvsWellDefined": "ENSP00000360806.3:p.Arg303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1430,
          "referenceAllele": "G",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "ENST00000635465.1:c.908G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489193.1:p.Arg303Gln",
        "hgvsWellDefined": "ENSP00000489193.1:p.Arg303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408140"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645471909",
      "coordinates": [
        {
          "allele": "A",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "NM_004975.2:c.908G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004966.1:p.Arg303Gln",
        "hgvsWellDefined": "NP_004966.1:p.Arg303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "referenceAllele": "G",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "XM_006723784.2:c.908G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723847.1:p.Arg303Gln",
        "hgvsWellDefined": "XP_006723847.1:p.Arg303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1220,
          "referenceAllele": "G",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "XM_011528799.1:c.908G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527101.1:p.Arg303Gln",
        "hgvsWellDefined": "XP_011527101.1:p.Arg303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645471909",
      "coordinates": [
        {
          "allele": "A",
          "end": 1072,
          "referenceAllele": "G",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "NM_004975.3:c.908G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004966.1:p.Arg303Gln",
        "hgvsWellDefined": "NP_004966.1:p.Arg303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1166,
          "referenceAllele": "G",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "XM_006723784.3:c.908G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723847.1:p.Arg303Gln",
        "hgvsWellDefined": "XP_006723847.1:p.Arg303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "XM_011528799.2:c.908G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527101.1:p.Arg303Gln",
        "hgvsWellDefined": "XP_011527101.1:p.Arg303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 156,
          "endIntronDirection": "+",
          "endIntronOffset": 42628,
          "referenceAllele": "C",
          "start": 156,
          "startIntronDirection": "+",
          "startIntronOffset": 42627
        }
      ],
      "hgvs": [
        "XR_001754659.1:n.156+42628C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645471909",
      "coordinates": [
        {
          "allele": "A",
          "end": 1096,
          "referenceAllele": "G",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006231",
      "geneNCBI_id": 3745,
      "geneSymbol": "KCNB1",
      "hgvs": [
        "NM_004975.4:c.908G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004966.1:p.Arg303Gln",
        "hgvsWellDefined": "NP_004966.1:p.Arg303Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371741.6:c.908G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004975.4:c.908G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360806.3:p.Arg303Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004966.1:p.Arg303Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}