{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339894234",
  "communityStandardTitle": [
    "NM_004700.4(KCNQ4):c.546C>A (p.Phe182Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.41284190C>A?assembly=hg19",
        "id": "chr1:g.41284190C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40818518C>A?assembly=hg38",
        "id": "chr1:g.40818518C>A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40818518-C-A?dataset=gnomad_r4",
        "id": "1-40818518-C-A",
        "variant": "1:40818518 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 40818518,
          "referenceAllele": "C",
          "start": 40818517
        }
      ],
      "hgvs": [
        "NC_000001.11:g.40818518C>A",
        "CM000663.2:g.40818518C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 41284190,
          "referenceAllele": "C",
          "start": 41284189
        }
      ],
      "hgvs": [
        "NC_000001.10:g.41284190C>A",
        "CM000663.1:g.41284190C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 41056777,
          "referenceAllele": "C",
          "start": 41056776
        }
      ],
      "hgvs": [
        "NC_000001.9:g.41056777C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39507,
          "referenceAllele": "C",
          "start": 39506
        }
      ],
      "hgvs": [
        "NG_008139.1:g.39507C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39507,
          "referenceAllele": "C",
          "start": 39506
        }
      ],
      "hgvs": [
        "NG_008139.2:g.39507C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39732,
          "referenceAllele": "C",
          "start": 39731
        }
      ],
      "hgvs": [
        "NG_008139.3:g.39732C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706079"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000347132.10:c.546C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262916.6:p.Phe182Leu",
        "hgvsWellDefined": "ENSP00000262916.6:p.Phe182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748330",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347132.10:c.546C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004700.4:c.546C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262916.6:p.Phe182Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004691.2:p.Phe182Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000347132.9:c.546C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262916.6:p.Phe182Leu",
        "hgvsWellDefined": "ENSP00000262916.6:p.Phe182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 232,
          "referenceAllele": "C",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000443478.3:c.232C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS297357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000509682.6:c.546C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423756.2:p.Phe182Leu",
        "hgvsWellDefined": "ENSP00000423756.2:p.Phe182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342052",
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_004700.3:c.546C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004691.2:p.Phe182Leu",
        "hgvsWellDefined": "NP_004691.2:p.Phe182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916062769",
      "coordinates": [
        {
          "allele": "A",
          "end": 628,
          "referenceAllele": "C",
          "start": 627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_172163.2:c.546C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_751895.1:p.Phe182Leu",
        "hgvsWellDefined": "NP_751895.1:p.Phe182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042665"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542417.1:c.546C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540719.1:p.Phe182Leu",
        "hgvsWellDefined": "XP_011540719.1:p.Phe182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542418.1:c.546C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540720.1:p.Phe182Leu",
        "hgvsWellDefined": "XP_011540720.1:p.Phe182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542419.1:c.546C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540721.1:p.Phe182Leu",
        "hgvsWellDefined": "XP_011540721.1:p.Phe182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542420.1:c.546C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540722.1:p.Phe182Leu",
        "hgvsWellDefined": "XP_011540722.1:p.Phe182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XR_946798.1:n.552C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XR_946799.1:n.552C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XR_946800.1:n.552C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA342052",
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_004700.4:c.546C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004691.2:p.Phe182Leu",
        "hgvsWellDefined": "NP_004691.2:p.Phe182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347132.10:c.546C>A"
          },
          "RefSeq": {
            "hgvs": "NM_004700.4:c.546C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262916.6:p.Phe182Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004691.2:p.Phe182Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916062769",
      "coordinates": [
        {
          "allele": "A",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_172163.3:c.546C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_751895.1:p.Phe182Leu",
        "hgvsWellDefined": "NP_751895.1:p.Phe182Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700485"
    }
  ],
  "type": "nucleotide"
}