{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1883870057",
  "communityStandardTitle": [
    "NM_020822.3(KCNT1):c.1421G= (p.Arg474=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515404",
        "rs": 397515404
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 135768848,
          "referenceAllele": "G",
          "start": 135768847
        }
      ],
      "hgvs": [
        "NC_000009.12:g.135768848G=",
        "CM000671.2:g.135768848G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 138660694,
          "referenceAllele": "G",
          "start": 138660693
        }
      ],
      "hgvs": [
        "NC_000009.11:g.138660694G=",
        "CM000671.1:g.138660694G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 137800515,
          "referenceAllele": "G",
          "start": 137800514
        }
      ],
      "hgvs": [
        "NC_000009.10:g.137800515G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 71664,
          "referenceAllele": "G",
          "start": 71663
        }
      ],
      "hgvs": [
        "NG_033070.1:g.71664G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005402"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000371757.7:c.1421G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360822.2:p.Arg474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750860",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371757.7:c.1421G="
          },
          "RefSeq": {
            "hgvs": "NM_020822.3:c.1421G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360822.2:p.Arg474="
          },
          "RefSeq": {
            "hgvs": "NP_065873.2:p.Arg474="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "referenceAllele": "G",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000636003.1:c.159G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762798"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1529,
          "referenceAllele": "G",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000674572.1:c.1262G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501742.1:p.Arg421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000675090.1:c.1169G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501833.1:p.Arg390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1259,
          "referenceAllele": "G",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000675399.1:c.1169G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501932.1:p.Arg390="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1262,
          "referenceAllele": "G",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000676421.1:c.1178G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502322.1:p.Arg393="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1438,
          "referenceAllele": "G",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000263604.5:c.1322G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263604.4:p.Arg441="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1488,
          "referenceAllele": "G",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000371757.6:c.1421G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360822.2:p.Arg474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000460750.5:c.*1031G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418777.1:n.*1031G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1410,
          "referenceAllele": "G",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000486577.6:c.1304G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417578.3:p.Arg435="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000487664.5:c.1421G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417851.2:p.Arg474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "G",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000488444.6:c.1364G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419007.3:p.Arg455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1364,
          "referenceAllele": "G",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000490355.6:c.1364G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418003.3:p.Arg455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1240,
          "referenceAllele": "G",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000490363.3:n.1240G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000491806.6:c.1364G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419086.3:p.Arg455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000628528.2:c.1286G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486374.1:p.Arg429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1262,
          "referenceAllele": "G",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000630792.2:c.1262G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486486.1:p.Arg421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407420"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1372,
          "referenceAllele": "G",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "ENST00000631073.2:c.1364G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486130.1:p.Arg455="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826547886",
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NM_001272003.1:c.1286G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258932.1:p.Arg429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020772"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829958289",
      "coordinates": [
        {
          "allele": "G",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NM_020822.2:c.1421G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065873.2:p.Arg474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518877.1:c.1556G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517179.1:p.Arg519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2443,
          "referenceAllele": "G",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518878.1:c.1565G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517180.1:p.Arg522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518879.1:c.1556G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517181.1:p.Arg519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518880.1:c.1322G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517182.1:p.Arg441="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "G",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518881.1:c.911G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517183.1:p.Arg304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1570,
          "referenceAllele": "G",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518877.3:c.1556G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517179.1:p.Arg519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545105"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1579,
          "referenceAllele": "G",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518878.3:c.1565G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517180.1:p.Arg522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1570,
          "referenceAllele": "G",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518879.3:c.1556G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517181.1:p.Arg519="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2383,
          "referenceAllele": "G",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_011518881.3:c.911G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517183.1:p.Arg304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "G",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_017014931.1:c.1355G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870420.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1262,
          "referenceAllele": "G",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_017014932.1:c.1178G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870421.1:p.Arg393="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1089,
          "referenceAllele": "G",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_017014933.1:c.911G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016870422.1:p.Arg304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1442,
          "referenceAllele": "G",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_024447617.1:c.911G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303385.1:p.Arg304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_024447618.1:c.911G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303386.1:p.Arg304="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829958289",
      "coordinates": [
        {
          "allele": "G",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NM_020822.3:c.1421G="
      ],
      "proteinEffect": {
        "hgvs": "NP_065873.2:p.Arg474="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371757.7:c.1421G="
          },
          "RefSeq": {
            "hgvs": "NM_020822.3:c.1421G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360822.2:p.Arg474="
          },
          "RefSeq": {
            "hgvs": "NP_065873.2:p.Arg474="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826547886",
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NM_001272003.2:c.1286G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001258932.1:p.Arg429="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681247"
    }
  ],
  "type": "nucleotide"
}