{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA379808875",
  "communityStandardTitle": [
    "NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1211429",
        "active": true,
        "id": "COSM1211429"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1211430",
        "active": true,
        "id": "COSM1211430"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=481404[alleleid]",
        "alleleId": 481404,
        "preferredName": "NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488536",
        "RCV": [
          "RCV000578307",
          "RCV000656267"
        ],
        "variationId": 488536
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17793903C>T?assembly=hg19",
        "id": "chr11:g.17793903C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.17772356C>T?assembly=hg38",
        "id": "chr11:g.17772356C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554991378",
        "rs": 1554991378
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-17772356-C-T?dataset=gnomad_r4",
        "id": "11-17772356-C-T",
        "variant": "11:17772356 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17772356,
          "referenceAllele": "C",
          "start": 17772355
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17772356C>T",
        "CM000673.2:g.17772356C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17793903,
          "referenceAllele": "C",
          "start": 17793902
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17793903C>T",
        "CM000673.1:g.17793903C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 17750479,
          "referenceAllele": "C",
          "start": 17750478
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17750479C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 41409,
          "referenceAllele": "C",
          "start": 41408
        }
      ],
      "hgvs": [
        "NG_041827.1:g.41409C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005890"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "ENST00000265969.8:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265969.7:p.Ala421Val",
        "hgvsWellDefined": "ENSP00000265969.7:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742907",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265969.8:c.1262C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001112741.2:c.1262C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265969.7:p.Ala421Val"
          },
          "RefSeq": {
            "hgvs": "NP_001106212.1:p.Ala421Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2491,
          "referenceAllele": "C",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "ENST00000379472.4:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368785.3:p.Ala421Val",
        "hgvsWellDefined": "ENSP00000368785.3:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "ENST00000639325.2:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492663.2:p.Ala421Val",
        "hgvsWellDefined": "ENSP00000492663.2:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764974"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 166,
          "referenceAllele": "C",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "ENST00000639495.1:c.166C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "ENST00000640153.1:n.790C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "ENST00000640318.2:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491189.2:p.Ala421Val",
        "hgvsWellDefined": "ENSP00000491189.2:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "ENST00000640909.2:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491644.2:p.Ala421Val",
        "hgvsWellDefined": "ENSP00000491644.2:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "ENST00000675775.1:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502716.1:p.Ala421Val",
        "hgvsWellDefined": "ENSP00000502716.1:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2453,
          "referenceAllele": "C",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "ENST00000265969.6:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265969.6:p.Ala421Val",
        "hgvsWellDefined": "ENSP00000265969.6:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "ENST00000379472.3:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368785.3:p.Ala421Val",
        "hgvsWellDefined": "ENSP00000368785.3:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658684475",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "NM_001112741.1:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106212.1:p.Ala421Val",
        "hgvsWellDefined": "NP_001106212.1:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915985547",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "NM_004976.4:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004967.1:p.Ala421Val",
        "hgvsWellDefined": "NP_004967.1:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1355,
          "referenceAllele": "C",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "XM_011520078.1:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518380.1:p.Ala421Val",
        "hgvsWellDefined": "XP_011518380.1:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1355,
          "referenceAllele": "C",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "XM_011520079.1:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518381.1:p.Ala421Val",
        "hgvsWellDefined": "XP_011518381.1:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1355,
          "referenceAllele": "C",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "XM_011520080.1:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518382.1:p.Ala421Val",
        "hgvsWellDefined": "XP_011518382.1:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1355,
          "referenceAllele": "C",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "XM_011520081.1:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518383.1:p.Ala421Val",
        "hgvsWellDefined": "XP_011518383.1:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1355,
          "referenceAllele": "C",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "XR_930866.1:n.1355C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2455,
          "referenceAllele": "C",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "XR_930866.2:n.2455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658684475",
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006233",
      "geneNCBI_id": 3746,
      "geneSymbol": "KCNC1",
      "hgvs": [
        "NM_001112741.2:c.1262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001106212.1:p.Ala421Val",
        "hgvsWellDefined": "NP_001106212.1:p.Ala421Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676689",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265969.8:c.1262C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001112741.2:c.1262C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265969.7:p.Ala421Val"
          },
          "RefSeq": {
            "hgvs": "NP_001106212.1:p.Ala421Val"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}