{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042924",
  "communityStandardTitle": [
    "NM_001287.6(CLCN7):c.2144A>G (p.Tyr715Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360150[alleleid]",
        "alleleId": 360150,
        "preferredName": "NM_001287.6(CLCN7):c.2144A>G (p.Tyr715Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372326",
        "RCV": [
          "RCV000412760",
          "RCV000824813"
        ],
        "variationId": 372326
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1497499T>C?assembly=hg19",
        "id": "chr16:g.1497499T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1447498T>C?assembly=hg38",
        "id": "chr16:g.1447498T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517718",
        "rs": 1057517718
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1447498-T-C?dataset=gnomad_r4",
        "id": "16-1447498-T-C",
        "variant": "16:1447498 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 1447498,
          "referenceAllele": "T",
          "start": 1447497
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1447498T>C",
        "CM000678.2:g.1447498T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 1497499,
          "referenceAllele": "T",
          "start": 1497498
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1497499T>C",
        "CM000678.1:g.1497499T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 1437500,
          "referenceAllele": "T",
          "start": 1437499
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1437500T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32587,
          "referenceAllele": "A",
          "start": 32586
        }
      ],
      "hgvs": [
        "NG_007567.1:g.32587A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000653"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2208,
          "referenceAllele": "A",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699947.1:c.2144A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514703.1:p.Tyr715Cys",
        "hgvsWellDefined": "ENSP00000514703.1:p.Tyr715Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2155,
          "referenceAllele": "A",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699948.1:c.*457A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514704.1:n.*457A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2198,
          "referenceAllele": "A",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.9:c.2144A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Tyr715Cys",
        "hgvsWellDefined": "ENSP00000372193.4:p.Tyr715Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.2144A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.2144A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Tyr715Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Tyr715Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2155,
          "referenceAllele": "A",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000262318.12:c.2072A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262318.8:p.Tyr691Cys",
        "hgvsWellDefined": "ENSP00000262318.8:p.Tyr691Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2750,
          "referenceAllele": "A",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.8:c.2144A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Tyr715Cys",
        "hgvsWellDefined": "ENSP00000372193.4:p.Tyr715Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "A",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000448525.5:c.2072A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410907.1:p.Tyr691Cys",
        "hgvsWellDefined": "ENSP00000410907.1:p.Tyr691Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2213,
          "referenceAllele": "A",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000563642.6:n.2213A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "referenceAllele": "A",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000565092.6:n.1179A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378533"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "A",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000567836.2:n.385A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571525",
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "A",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.2:c.2072A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Tyr691Cys",
        "hgvsWellDefined": "NP_001107803.1:p.Tyr691Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645502327",
      "coordinates": [
        {
          "allele": "G",
          "end": 2254,
          "referenceAllele": "A",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.5:c.2144A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Tyr715Cys",
        "hgvsWellDefined": "NP_001278.1:p.Tyr715Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2336,
          "referenceAllele": "A",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "XM_011522354.1:c.1970A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520656.1:p.Tyr657Cys",
        "hgvsWellDefined": "XP_011520656.1:p.Tyr657Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645502327",
      "coordinates": [
        {
          "allele": "G",
          "end": 2198,
          "referenceAllele": "A",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.6:c.2144A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Tyr715Cys",
        "hgvsWellDefined": "NP_001278.1:p.Tyr715Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.2144A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.2144A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Tyr715Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Tyr715Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571525",
      "coordinates": [
        {
          "allele": "G",
          "end": 2126,
          "referenceAllele": "A",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.3:c.2072A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Tyr691Cys",
        "hgvsWellDefined": "NP_001107803.1:p.Tyr691Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712124"
    }
  ],
  "type": "nucleotide"
}