{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394190459",
  "communityStandardTitle": [
    "NM_001287.6(CLCN7):c.838C>T (p.Arg280Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=874718[alleleid]",
        "alleleId": 874718,
        "preferredName": "NM_001287.6(CLCN7):c.838C>T (p.Arg280Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/887536",
        "RCV": [
          "RCV001120326",
          "RCV002556579"
        ],
        "variationId": 887536
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1506192G>A?assembly=hg19",
        "id": "chr16:g.1506192G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1456191G>A?assembly=hg38",
        "id": "chr16:g.1456191G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1395527274",
        "rs": 1395527274
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1506192-G-A?dataset=gnomad_r2_1",
        "id": "16-1506192-G-A",
        "variant": "16:1506192 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1456191-G-A?dataset=gnomad_r3",
        "id": "16-1456191-G-A",
        "variant": "16:1456191 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1456191-G-A?dataset=gnomad_r4",
        "id": "16-1456191-G-A",
        "variant": "16:1456191 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1456191,
          "referenceAllele": "G",
          "start": 1456190
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1456191G>A",
        "CM000678.2:g.1456191G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1506192,
          "referenceAllele": "G",
          "start": 1506191
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1506192G>A",
        "CM000678.1:g.1506192G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1446193,
          "referenceAllele": "G",
          "start": 1446192
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1446193G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23894,
          "referenceAllele": "C",
          "start": 23893
        }
      ],
      "hgvs": [
        "NG_007567.1:g.23894C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000653"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699947.1:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514703.1:p.Arg280Cys",
        "hgvsWellDefined": "ENSP00000514703.1:p.Arg280Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699948.1:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514704.1:p.Arg280Cys",
        "hgvsWellDefined": "ENSP00000514704.1:p.Arg280Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699950.1:n.790C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "C",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.9:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Arg280Cys",
        "hgvsWellDefined": "ENSP00000372193.4:p.Arg280Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.838C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.838C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Arg280Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Arg280Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000262318.12:c.766C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262318.8:p.Arg256Cys",
        "hgvsWellDefined": "ENSP00000262318.8:p.Arg256Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.8:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Arg280Cys",
        "hgvsWellDefined": "ENSP00000372193.4:p.Arg280Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000448525.5:c.766C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410907.1:p.Arg256Cys",
        "hgvsWellDefined": "ENSP00000410907.1:p.Arg256Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000563822.1:n.469C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377671"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571162",
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.2:c.766C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Arg256Cys",
        "hgvsWellDefined": "NP_001107803.1:p.Arg256Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139694870",
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.5:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Arg280Cys",
        "hgvsWellDefined": "NP_001278.1:p.Arg280Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "XM_011522354.1:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520656.1:p.Arg222Cys",
        "hgvsWellDefined": "XP_011520656.1:p.Arg222Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139694870",
      "coordinates": [
        {
          "allele": "T",
          "end": 892,
          "referenceAllele": "C",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.6:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Arg280Cys",
        "hgvsWellDefined": "NP_001278.1:p.Arg280Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.838C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.838C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Arg280Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Arg280Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571162",
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.3:c.766C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Arg256Cys",
        "hgvsWellDefined": "NP_001107803.1:p.Arg256Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712124"
    }
  ],
  "type": "nucleotide"
}