{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA410198359",
  "communityStandardTitle": [
    "NM_000219.6(KCNE1):c.163G>C (p.Gly55Arg)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1713957",
        "active": true,
        "id": "COSM1713957"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1295448[alleleid]",
        "alleleId": 1295448,
        "preferredName": "NM_000219.6(KCNE1):c.163G>C (p.Gly55Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1305173",
        "RCV": [
          "RCV001773883"
        ],
        "variationId": 1305173
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.34449472C>G?assembly=hg38",
        "id": "chr21:g.34449472C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199473644",
        "rs": 199473644
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-34449472-C-G?dataset=gnomad_r4",
        "id": "21-34449472-C-G",
        "variant": "21:34449472 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 34449472,
          "referenceAllele": "C",
          "start": 34449471
        }
      ],
      "hgvs": [
        "NC_000021.9:g.34449472C>G",
        "CM000683.2:g.34449472C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 66844,
          "referenceAllele": "G",
          "start": 66843
        }
      ],
      "hgvs": [
        "NG_009091.1:g.66844G>C",
        "LRG_290:g.66844G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001424"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "G",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000399286.3:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382226.2:p.Gly55Arg",
        "hgvsWellDefined": "ENSP00000382226.2:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399286.3:c.163G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000219.6:c.163G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382226.2:p.Gly55Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000210.2:p.Gly55Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000337385.7:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337255.3:p.Gly55Arg",
        "hgvsWellDefined": "ENSP00000337255.3:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 439,
          "referenceAllele": "G",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000399284.1:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382225.1:p.Gly55Arg",
        "hgvsWellDefined": "ENSP00000382225.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278621"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000399286.2:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382226.2:p.Gly55Arg",
        "hgvsWellDefined": "ENSP00000382226.2:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278623"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000399289.7:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382228.3:p.Gly55Arg",
        "hgvsWellDefined": "ENSP00000382228.3:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "G",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000416357.6:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416258.2:p.Gly55Arg",
        "hgvsWellDefined": "ENSP00000416258.2:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000432085.5:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412498.1:p.Gly55Arg",
        "hgvsWellDefined": "ENSP00000412498.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000611936.1:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478215.1:p.Gly55Arg",
        "hgvsWellDefined": "ENSP00000478215.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "G",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "ENST00000621601.4:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483895.1:p.Gly55Arg",
        "hgvsWellDefined": "ENSP00000483895.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825090524",
      "coordinates": [
        {
          "allele": "C",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_000219.5:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000210.2:p.Gly55Arg",
        "hgvsWellDefined": "NP_000210.2:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825652642",
      "coordinates": [
        {
          "allele": "C",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127668.3:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121140.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001121140.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825652833",
      "coordinates": [
        {
          "allele": "C",
          "end": 372,
          "referenceAllele": "G",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127669.3:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121141.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001121141.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825652994",
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127670.3:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121142.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001121142.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011671"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826511431",
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270402.2:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257331.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001257331.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020265"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826511780",
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270403.2:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257332.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001257332.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826512143",
      "coordinates": [
        {
          "allele": "C",
          "end": 452,
          "referenceAllele": "G",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270404.2:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257333.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001257333.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573068664",
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "G",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270405.2:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257334.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001257334.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020268"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "endIntronDirection": "+",
          "endIntronOffset": 5914,
          "referenceAllele": "G",
          "start": 418,
          "startIntronDirection": "+",
          "startIntronOffset": 5913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "XM_011529555.1:c.13+5914G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527857.1:n.13+5914G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 422,
          "endIntronDirection": "+",
          "endIntronOffset": 9182,
          "referenceAllele": "G",
          "start": 422,
          "startIntronDirection": "+",
          "startIntronOffset": 9181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "XM_011529557.1:c.279+9182G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527859.1:n.279+9182G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2140,
          "referenceAllele": "G",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "XM_017028342.1:c.226G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883831.1:p.Gly76Arg",
        "hgvsWellDefined": "XP_016883831.1:p.Gly76Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825090524",
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "G",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_000219.6:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000210.2:p.Gly55Arg",
        "hgvsWellDefined": "NP_000210.2:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662361",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399286.3:c.163G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000219.6:c.163G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382226.2:p.Gly55Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000210.2:p.Gly55Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825652833",
      "coordinates": [
        {
          "allele": "C",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127669.4:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121141.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001121141.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825652642",
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "G",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127668.4:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121140.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001121140.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825652994",
      "coordinates": [
        {
          "allele": "C",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001127670.4:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121142.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001121142.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826511431",
      "coordinates": [
        {
          "allele": "C",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270402.3:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257331.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001257331.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826512143",
      "coordinates": [
        {
          "allele": "C",
          "end": 437,
          "referenceAllele": "G",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270404.3:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257333.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001257333.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573068664",
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "G",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006240",
      "geneNCBI_id": 3753,
      "geneSymbol": "KCNE1",
      "hgvs": [
        "NM_001270405.3:c.163G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257334.1:p.Gly55Arg",
        "hgvsWellDefined": "NP_001257334.1:p.Gly55Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715151"
    }
  ],
  "type": "nucleotide"
}