{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA794667",
  "communityStandardTitle": [
    "NM_004700.4(KCNQ4):c.835-13T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1617531[alleleid]",
        "alleleId": 1617531,
        "preferredName": "NM_004700.4(KCNQ4):c.835-13T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1628940",
        "RCV": [
          "RCV002116388"
        ],
        "variationId": 1628940
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-41285534-T-C",
        "id": "1-41285534-T-C",
        "variant": "1:41285534 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.41285534T>C?assembly=hg19",
        "id": "chr1:g.41285534T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40819862T>C?assembly=hg38",
        "id": "chr1:g.40819862T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754069767",
        "rs": 754069767
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-41285534-T-C?dataset=gnomad_r2_1",
        "id": "1-41285534-T-C",
        "variant": "1:41285534 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40819862-T-C?dataset=gnomad_r4",
        "id": "1-40819862-T-C",
        "variant": "1:40819862 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 40819862,
          "referenceAllele": "T",
          "start": 40819861
        }
      ],
      "hgvs": [
        "NC_000001.11:g.40819862T>C",
        "CM000663.2:g.40819862T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 41285534,
          "referenceAllele": "T",
          "start": 41285533
        }
      ],
      "hgvs": [
        "NC_000001.10:g.41285534T>C",
        "CM000663.1:g.41285534T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 41058121,
          "referenceAllele": "T",
          "start": 41058120
        }
      ],
      "hgvs": [
        "NC_000001.9:g.41058121T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 40851,
          "referenceAllele": "T",
          "start": 40850
        }
      ],
      "hgvs": [
        "NG_008139.1:g.40851T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000885"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 40851,
          "referenceAllele": "T",
          "start": 40850
        }
      ],
      "hgvs": [
        "NG_008139.2:g.40851T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 41076,
          "referenceAllele": "T",
          "start": 41075
        }
      ],
      "hgvs": [
        "NG_008139.3:g.41076T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706079"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 1141,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000347132.10:c.835-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262916.6:n.835-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748330",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347132.10:c.835-13T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004700.4:c.835-13T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262916.6:n.835-13T>C"
          },
          "RefSeq": {
            "hgvs": "NP_004691.2:n.835-13T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 916,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 916,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000347132.9:c.835-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262916.6:n.835-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 520,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 520,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000443478.3:c.521-13T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS297357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 153,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 153,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000506017.1:n.154-13T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337656"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 834,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000509682.6:c.835-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423756.2:n.835-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 916,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 916,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_004700.3:c.835-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004691.2:n.835-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029850"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 916,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 916,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_172163.2:c.835-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_751895.1:n.835-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542417.1:c.835-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540719.1:n.835-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542418.1:c.835-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540720.1:n.835-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542419.1:c.835-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540721.1:n.835-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542420.1:c.835-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540722.1:n.835-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XR_946798.1:n.841-13T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140380"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XR_946799.1:n.841-13T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 840,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XR_946800.1:n.841-13T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 157,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_017002792.1:c.-183-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858281.1:n.-183-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 1141,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_004700.4:c.835-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004691.2:n.835-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347132.10:c.835-13T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004700.4:c.835-13T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262916.6:n.835-13T>C"
          },
          "RefSeq": {
            "hgvs": "NP_004691.2:n.835-13T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "T",
          "start": 1141,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_172163.3:c.835-13T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_751895.1:n.835-13T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700485"
    }
  ],
  "type": "nucleotide"
}