{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341547",
  "communityStandardTitle": [
    "NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3942097",
        "active": true,
        "id": "COSM3942097"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33897[alleleid]",
        "alleleId": 33897,
        "preferredName": "NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21045",
        "RCV": [
          "RCV001208684",
          "RCV003144110"
        ],
        "variationId": 21045
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-143018822-G-A",
        "id": "7-143018822-G-A",
        "variant": "7:143018822 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.143018822G>A?assembly=hg19",
        "id": "chr7:g.143018822G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.143321729G>A?assembly=hg38",
        "id": "chr7:g.143321729G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356686",
        "rs": 80356686
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-143018822-G-A?dataset=gnomad_r2_1",
        "id": "7-143018822-G-A",
        "variant": "7:143018822 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-143321729-G-A?dataset=gnomad_r3",
        "id": "7-143321729-G-A",
        "variant": "7:143321729 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-143321729-G-A?dataset=gnomad_r4",
        "id": "7-143321729-G-A",
        "variant": "7:143321729 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 143321729,
          "referenceAllele": "G",
          "start": 143321728
        }
      ],
      "hgvs": [
        "NC_000007.14:g.143321729G>A",
        "CM000669.2:g.143321729G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 143018822,
          "referenceAllele": "G",
          "start": 143018821
        }
      ],
      "hgvs": [
        "NC_000007.13:g.143018822G>A",
        "CM000669.1:g.143018822G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 142728944,
          "referenceAllele": "G",
          "start": 142728943
        }
      ],
      "hgvs": [
        "NC_000007.12:g.142728944G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10604,
          "referenceAllele": "G",
          "start": 10603
        }
      ],
      "hgvs": [
        "NG_009815.1:g.10604G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10604,
          "referenceAllele": "G",
          "start": 10603
        }
      ],
      "hgvs": [
        "NG_009815.2:g.10604G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706098"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000650516.2:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498052.2:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000498052.2:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000343257.7:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339867.2:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000339867.2:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748129",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343257.7:c.577G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000083.3:c.577G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339867.2:p.Glu193Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000074.3:p.Glu193Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000432192.6:c.345G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31,
          "referenceAllele": "G",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000455478.6:c.31G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400027.2:p.Glu11Lys",
        "hgvsWellDefined": "ENSP00000400027.2:p.Glu11Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000650516.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498052.1:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000498052.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000343257.6:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339867.2:p.Glu193Lys",
        "hgvsWellDefined": "ENSP00000339867.2:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35,
          "referenceAllele": "G",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000432192.5:c.35G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35,
          "referenceAllele": "G",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000455478.5:c.35G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35,
          "referenceAllele": "G",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000495612.1:n.35G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341548",
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NM_000083.2:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000074.2:p.Glu193Lys",
        "hgvsWellDefined": "NP_000074.2:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 664,
          "referenceAllele": "G",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NR_046453.1:n.664G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "referenceAllele": "G",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_011515781.1:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514083.1:p.Glu193Lys",
        "hgvsWellDefined": "XP_011514083.1:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011739.1:c.284G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867228.1:p.Arg95Gln",
        "hgvsWellDefined": "XP_016867228.1:p.Arg95Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011740.1:c.284G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867229.1:p.Arg95Gln",
        "hgvsWellDefined": "XP_016867229.1:p.Arg95Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915953440",
      "coordinates": [
        {
          "allele": "A",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NM_000083.3:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000074.3:p.Glu193Lys",
        "hgvsWellDefined": "NP_000074.3:p.Glu193Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674691",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343257.7:c.577G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000083.3:c.577G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339867.2:p.Glu193Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000074.3:p.Glu193Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 679,
          "referenceAllele": "G",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NR_046453.2:n.679G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702503"
    }
  ],
  "type": "nucleotide"
}