{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394189712",
  "communityStandardTitle": [
    "NM_001287.6(CLCN7):c.1077C>G (p.Asn359Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3520321[alleleid]",
        "alleleId": 3520321,
        "preferredName": "NM_001287.6(CLCN7):c.1077C>G (p.Asn359Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3361110",
        "RCV": [
          "RCV004760142"
        ],
        "variationId": 3361110
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1505156G>C?assembly=hg19",
        "id": "chr16:g.1505156G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1455155G>C?assembly=hg38",
        "id": "chr16:g.1455155G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 1455155,
          "referenceAllele": "G",
          "start": 1455154
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1455155G>C",
        "CM000678.2:g.1455155G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 1505156,
          "referenceAllele": "G",
          "start": 1505155
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1505156G>C",
        "CM000678.1:g.1505156G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 1445157,
          "referenceAllele": "G",
          "start": 1445156
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1445157G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24930,
          "referenceAllele": "C",
          "start": 24929
        }
      ],
      "hgvs": [
        "NG_007567.1:g.24930C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000653"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "referenceAllele": "C",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699947.1:c.1077C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514703.1:p.Asn359Lys",
        "hgvsWellDefined": "ENSP00000514703.1:p.Asn359Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "referenceAllele": "C",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699948.1:c.1077C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514704.1:p.Asn359Lys",
        "hgvsWellDefined": "ENSP00000514704.1:p.Asn359Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699950.1:n.1029C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.9:c.1077C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Asn359Lys",
        "hgvsWellDefined": "ENSP00000372193.4:p.Asn359Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.1077C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.1077C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Asn359Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Asn359Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1088,
          "referenceAllele": "C",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000262318.12:c.1005C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262318.8:p.Asn335Lys",
        "hgvsWellDefined": "ENSP00000262318.8:p.Asn335Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1683,
          "referenceAllele": "C",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.8:c.1077C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Asn359Lys",
        "hgvsWellDefined": "ENSP00000372193.4:p.Asn359Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000448525.5:c.1005C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410907.1:p.Asn335Lys",
        "hgvsWellDefined": "ENSP00000410907.1:p.Asn335Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571224",
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.2:c.1005C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Asn335Lys",
        "hgvsWellDefined": "NP_001107803.1:p.Asn335Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573069566",
      "coordinates": [
        {
          "allele": "G",
          "end": 1187,
          "referenceAllele": "C",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.5:c.1077C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Asn359Lys",
        "hgvsWellDefined": "NP_001278.1:p.Asn359Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "XM_011522354.1:c.903C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520656.1:p.Asn301Lys",
        "hgvsWellDefined": "XP_011520656.1:p.Asn301Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573069566",
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.6:c.1077C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Asn359Lys",
        "hgvsWellDefined": "NP_001278.1:p.Asn359Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.1077C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.1077C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Asn359Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Asn359Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571224",
      "coordinates": [
        {
          "allele": "G",
          "end": 1059,
          "referenceAllele": "C",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.3:c.1005C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Asn335Lys",
        "hgvsWellDefined": "NP_001107803.1:p.Asn335Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712124"
    }
  ],
  "type": "nucleotide"
}