{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA794446",
  "communityStandardTitle": [
    "NM_004700.4(KCNQ4):c.176C>T (p.Pro59Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=732448[alleleid]",
        "alleleId": 732448,
        "preferredName": "NM_004700.4(KCNQ4):c.176C>T (p.Pro59Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/730845",
        "RCV": [
          "RCV000905703",
          "RCV003446526",
          "RCV003968312"
        ],
        "variationId": 730845
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-41249941-C-T",
        "id": "1-41249941-C-T",
        "variant": "1:41249941 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.41249941C>T?assembly=hg19",
        "id": "chr1:g.41249941C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.40784269C>T?assembly=hg38",
        "id": "chr1:g.40784269C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/775420649",
        "rs": 775420649
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-41249941-C-T?dataset=gnomad_r2_1",
        "id": "1-41249941-C-T",
        "variant": "1:41249941 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40784269-C-T?dataset=gnomad_r3",
        "id": "1-40784269-C-T",
        "variant": "1:40784269 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-40784269-C-T?dataset=gnomad_r4",
        "id": "1-40784269-C-T",
        "variant": "1:40784269 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 40784269,
          "referenceAllele": "C",
          "start": 40784268
        }
      ],
      "hgvs": [
        "NC_000001.11:g.40784269C>T",
        "CM000663.2:g.40784269C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 41249941,
          "referenceAllele": "C",
          "start": 41249940
        }
      ],
      "hgvs": [
        "NC_000001.10:g.41249941C>T",
        "CM000663.1:g.41249941C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 41022528,
          "referenceAllele": "C",
          "start": 41022527
        }
      ],
      "hgvs": [
        "NC_000001.9:g.41022528C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5258,
          "referenceAllele": "C",
          "start": 5257
        }
      ],
      "hgvs": [
        "NG_008139.1:g.5258C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5258,
          "referenceAllele": "C",
          "start": 5257
        }
      ],
      "hgvs": [
        "NG_008139.2:g.5258C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5483,
          "referenceAllele": "C",
          "start": 5482
        }
      ],
      "hgvs": [
        "NG_008139.3:g.5483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706079"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000347132.10:c.176C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262916.6:p.Pro59Leu",
        "hgvsWellDefined": "ENSP00000262916.6:p.Pro59Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748330",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347132.10:c.176C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004700.4:c.176C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262916.6:p.Pro59Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004691.2:p.Pro59Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000347132.9:c.176C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262916.6:p.Pro59Leu",
        "hgvsWellDefined": "ENSP00000262916.6:p.Pro59Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "ENST00000509682.6:c.176C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423756.2:p.Pro59Leu",
        "hgvsWellDefined": "ENSP00000423756.2:p.Pro59Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579965461",
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_004700.3:c.176C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004691.2:p.Pro59Leu",
        "hgvsWellDefined": "NP_004691.2:p.Pro59Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916062762",
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "C",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_172163.2:c.176C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_751895.1:p.Pro59Leu",
        "hgvsWellDefined": "NP_751895.1:p.Pro59Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542417.1:c.176C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540719.1:p.Pro59Leu",
        "hgvsWellDefined": "XP_011540719.1:p.Pro59Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542418.1:c.176C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540720.1:p.Pro59Leu",
        "hgvsWellDefined": "XP_011540720.1:p.Pro59Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542419.1:c.176C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540721.1:p.Pro59Leu",
        "hgvsWellDefined": "XP_011540721.1:p.Pro59Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XM_011542420.1:c.176C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540722.1:p.Pro59Leu",
        "hgvsWellDefined": "XP_011540722.1:p.Pro59Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XR_946798.1:n.182C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XR_946799.1:n.182C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "XR_946800.1:n.182C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2579965461",
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_004700.4:c.176C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004691.2:p.Pro59Leu",
        "hgvsWellDefined": "NP_004691.2:p.Pro59Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666607",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000347132.10:c.176C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004700.4:c.176C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262916.6:p.Pro59Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004691.2:p.Pro59Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916062762",
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "C",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006298",
      "geneNCBI_id": 9132,
      "geneSymbol": "KCNQ4",
      "hgvs": [
        "NM_172163.3:c.176C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_751895.1:p.Pro59Leu",
        "hgvsWellDefined": "NP_751895.1:p.Pro59Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700485"
    }
  ],
  "type": "nucleotide"
}