{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA005987",
  "communityStandardTitle": [
    "NM_000218.3(KCNQ1):c.1608C>A (p.Tyr536Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=67665[alleleid]",
        "alleleId": 67665,
        "preferredName": "NM_000218.3(KCNQ1):c.1608C>A (p.Tyr536Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/52997",
        "RCV": [
          "RCV000182320",
          "RCV001857383"
        ],
        "variationId": 52997
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2797207C>A?assembly=hg19",
        "id": "chr11:g.2797207C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.2775977C>A?assembly=hg38",
        "id": "chr11:g.2775977C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/138551008",
        "rs": 138551008
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-2775977-C-A?dataset=gnomad_r4",
        "id": "11-2775977-C-A",
        "variant": "11:2775977 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2775977,
          "referenceAllele": "C",
          "start": 2775976
        }
      ],
      "hgvs": [
        "NC_000011.10:g.2775977C>A",
        "CM000673.2:g.2775977C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2797207,
          "referenceAllele": "C",
          "start": 2797206
        }
      ],
      "hgvs": [
        "NC_000011.9:g.2797207C>A",
        "CM000673.1:g.2797207C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 2753783,
          "referenceAllele": "C",
          "start": 2753782
        }
      ],
      "hgvs": [
        "NC_000011.8:g.2753783C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 335987,
          "referenceAllele": "C",
          "start": 335986
        }
      ],
      "hgvs": [
        "NG_008935.1:g.335987C>A",
        "LRG_287:g.335987C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000496887.7:c.1251C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434560.2:p.Tyr417Ter",
        "hgvsWellDefined": "ENSP00000434560.2:p.Tyr417_Ser557delinsAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914172"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1159,
          "referenceAllele": "C",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.2:c.1068C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.2:p.Tyr356Ter",
        "hgvsWellDefined": "ENSP00000495806.2:p.Tyr356_Ser428delinsAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysSerThrLysLysArgProSerProGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.12:c.1608C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Tyr536Ter",
        "hgvsWellDefined": "ENSP00000155840.2:p.Tyr536_Ser676delinsAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1608C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1608C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Tyr536Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Tyr536Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1496,
          "referenceAllele": "C",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.6:c.1227C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Tyr409Ter",
        "hgvsWellDefined": "ENSP00000334497.5:p.Tyr409_Ser549delinsAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000646564.1:c.714C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495806.1:p.Tyr238Ter",
        "hgvsWellDefined": "ENSP00000495806.1:p.Tyr238_Ser310delinsAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysSerThrLysLysArgProSerProGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1716,
          "referenceAllele": "C",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000155840.9:c.1608C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000155840.2:p.Tyr536Ter",
        "hgvsWellDefined": "ENSP00000155840.2:p.Tyr536_Ser676delinsAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1501,
          "referenceAllele": "C",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "ENST00000335475.5:c.1227C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334497.5:p.Tyr409Ter",
        "hgvsWellDefined": "ENSP00000334497.5:p.Tyr409_Ser549delinsAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306082",
      "coordinates": [
        {
          "allele": "A",
          "end": 1716,
          "referenceAllele": "C",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.2:c.1608C>A",
        "LRG_287t1:c.1608C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Tyr536Ter",
        "hgvsWellDefined": "NP_000209.2:p.Tyr536_Ser676delinsAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306081",
      "coordinates": [
        {
          "allele": "A",
          "end": 1483,
          "referenceAllele": "C",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_181798.1:c.1227C>A",
        "LRG_287t2:c.1227C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_861463.1:p.Tyr409Ter",
        "hgvsWellDefined": "NP_861463.1:p.Tyr409_Ser549delinsAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043877"
    },
    {
      "@id": "http://reg.genome.network/allele/PA306082",
      "coordinates": [
        {
          "allele": "A",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006294",
      "geneNCBI_id": 3784,
      "geneSymbol": "KCNQ1",
      "hgvs": [
        "NM_000218.3:c.1608C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000209.2:p.Tyr536Ter",
        "hgvsWellDefined": "NP_000209.2:p.Tyr536_Ser676delinsAspValArgAspValIleGluGlnTyrSerGlnGlyHisLeuAsnLeuMetValArgIleLysGluLeuGlnArgArgLeuAspGlnSerIleGlyLysProSerLeuPheIleSerValSerGluLysSerLysAspArgGlySerAsnThrIleGlyAlaArgLeuAsnArgValGluAspLysValThrGlnLeuAspGlnArgLeuAlaLeuIleThrAspMetLeuHisGlnLeuLeuSerLeuHisGlyGlySerThrProGlySerGlyGlyProProArgGluGlyGlyAlaHisIleThrGlnProCysGlySerGlyGlySerValAspProGluLeuPheLeuProSerAsnThrLeuProThrTyrGluGlnLeuThrValProArgArgGlyProAspGluGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000155840.12:c.1608C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000218.3:c.1608C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000155840.2:p.Tyr536Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000209.2:p.Tyr536Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}