{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338641319",
  "communityStandardTitle": [
    "NM_000085.5(CLCNKB):c.1309G>C (p.Gly437Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.16378216G>C?assembly=hg19",
        "id": "chr1:g.16378216G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.16051721G>C?assembly=hg38",
        "id": "chr1:g.16051721G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755714542",
        "rs": 755714542
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16051721-G-C?dataset=gnomad_r4",
        "id": "1-16051721-G-C",
        "variant": "1:16051721 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 16051721,
          "referenceAllele": "G",
          "start": 16051720
        }
      ],
      "hgvs": [
        "NC_000001.11:g.16051721G>C",
        "CM000663.2:g.16051721G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 16378216,
          "referenceAllele": "G",
          "start": 16378215
        }
      ],
      "hgvs": [
        "NC_000001.10:g.16378216G>C",
        "CM000663.1:g.16378216G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 16250803,
          "referenceAllele": "G",
          "start": 16250802
        }
      ],
      "hgvs": [
        "NC_000001.9:g.16250803G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 12970,
          "referenceAllele": "G",
          "start": 12969
        }
      ],
      "hgvs": [
        "NG_013079.1:g.12970G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002702"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1719,
          "referenceAllele": "G",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000682338.1:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507062.1:p.Gly437Arg",
        "hgvsWellDefined": "ENSP00000507062.1:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827330"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1989,
          "referenceAllele": "G",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000682793.1:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506910.1:p.Gly437Arg",
        "hgvsWellDefined": "ENSP00000506910.1:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2116,
          "referenceAllele": "G",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000682838.1:c.*1051G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507652.1:n.*1051G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1845,
          "referenceAllele": "G",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000683578.1:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507430.1:p.Gly437Arg",
        "hgvsWellDefined": "ENSP00000507430.1:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000683606.1:n.924G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2844,
          "referenceAllele": "G",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000683661.1:n.2844G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000684324.1:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507937.1:p.Gly437Arg",
        "hgvsWellDefined": "ENSP00000507937.1:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1501,
          "referenceAllele": "G",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000684545.1:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506733.1:p.Gly437Arg",
        "hgvsWellDefined": "ENSP00000506733.1:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000684624.1:n.686G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000684714.1:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506861.1:p.Gly437Arg",
        "hgvsWellDefined": "ENSP00000506861.1:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829665"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 770,
          "referenceAllele": "G",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000684731.1:n.770G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1415,
          "referenceAllele": "G",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000375679.9:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364831.5:p.Gly437Arg",
        "hgvsWellDefined": "ENSP00000364831.5:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751651",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375679.9:c.1309G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000085.5:c.1309G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364831.5:p.Gly437Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000076.2:p.Gly437Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 985,
          "referenceAllele": "G",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000375667.7:c.802G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364819.3:p.Gly268Arg",
        "hgvsWellDefined": "ENSP00000364819.3:p.Gly268Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1420,
          "referenceAllele": "G",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000375679.8:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364831.4:p.Gly437Arg",
        "hgvsWellDefined": "ENSP00000364831.4:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1080,
          "referenceAllele": "G",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "ENST00000619181.4:c.928G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483866.1:p.Gly310Arg",
        "hgvsWellDefined": "ENSP00000483866.1:p.Gly310Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915954021",
      "coordinates": [
        {
          "allele": "C",
          "end": 1461,
          "referenceAllele": "G",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "NM_000085.4:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000076.2:p.Gly437Arg",
        "hgvsWellDefined": "NP_000076.2:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826007909",
      "coordinates": [
        {
          "allele": "C",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "NM_001165945.2:c.802G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159417.2:p.Gly268Arg",
        "hgvsWellDefined": "NP_001159417.2:p.Gly268Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "XM_011540619.1:c.1150G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538921.1:p.Gly384Arg",
        "hgvsWellDefined": "XP_011538921.1:p.Gly384Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1461,
          "referenceAllele": "G",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "XM_011540620.1:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538922.1:p.Gly437Arg",
        "hgvsWellDefined": "XP_011538922.1:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "XM_011540621.1:c.658G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538923.1:p.Gly220Arg",
        "hgvsWellDefined": "XP_011538923.1:p.Gly220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915954021",
      "coordinates": [
        {
          "allele": "C",
          "end": 1415,
          "referenceAllele": "G",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002027",
      "geneNCBI_id": 1188,
      "geneSymbol": "CLCNKB",
      "hgvs": [
        "NM_000085.5:c.1309G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000076.2:p.Gly437Arg",
        "hgvsWellDefined": "NP_000076.2:p.Gly437Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674693",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375679.9:c.1309G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000085.5:c.1309G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364831.5:p.Gly437Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000076.2:p.Gly437Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}