{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA369649895",
  "communityStandardTitle": [
    "NM_000083.3(CLCN1):c.2015G>A (p.Arg672His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1780639[alleleid]",
        "alleleId": 1780639,
        "preferredName": "NM_000083.3(CLCN1):c.2015G>A (p.Arg672His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1723137",
        "RCV": [
          "RCV002306244"
        ],
        "variationId": 1723137
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.143042698G>A?assembly=hg19",
        "id": "chr7:g.143042698G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.143345605G>A?assembly=hg38",
        "id": "chr7:g.143345605G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777888721",
        "rs": 777888721
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-143345605-G-A?dataset=gnomad_r4",
        "id": "7-143345605-G-A",
        "variant": "7:143345605 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 143345605,
          "referenceAllele": "G",
          "start": 143345604
        }
      ],
      "hgvs": [
        "NC_000007.14:g.143345605G>A",
        "CM000669.2:g.143345605G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 143042698,
          "referenceAllele": "G",
          "start": 143042697
        }
      ],
      "hgvs": [
        "NC_000007.13:g.143042698G>A",
        "CM000669.1:g.143042698G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 142752820,
          "referenceAllele": "G",
          "start": 142752819
        }
      ],
      "hgvs": [
        "NC_000007.12:g.142752820G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34480,
          "referenceAllele": "G",
          "start": 34479
        }
      ],
      "hgvs": [
        "NG_009815.1:g.34480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34480,
          "referenceAllele": "G",
          "start": 34479
        }
      ],
      "hgvs": [
        "NG_009815.2:g.34480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706098"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2102,
          "referenceAllele": "G",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000650516.2:c.2015G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498052.2:p.Arg672His",
        "hgvsWellDefined": "ENSP00000498052.2:p.Arg672His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2117,
          "referenceAllele": "G",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000343257.7:c.2015G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339867.2:p.Arg672His",
        "hgvsWellDefined": "ENSP00000339867.2:p.Arg672His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748129",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343257.7:c.2015G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000083.3:c.2015G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339867.2:p.Arg672His"
          },
          "RefSeq": {
            "hgvs": "NP_000074.3:p.Arg672His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1839,
          "referenceAllele": "G",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000432192.6:c.1839G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755399"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2102,
          "referenceAllele": "G",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000343257.6:c.2015G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339867.2:p.Arg672His",
        "hgvsWellDefined": "ENSP00000339867.2:p.Arg672His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2102,
          "referenceAllele": "G",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NM_000083.2:c.2015G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000074.2:p.Arg672His",
        "hgvsWellDefined": "NP_000074.2:p.Arg672His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1955,
          "referenceAllele": "G",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NR_046453.1:n.1955G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_011515781.1:c.2039G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514083.1:p.Arg680His",
        "hgvsWellDefined": "XP_011514083.1:p.Arg680His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_011515782.1:c.761G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514084.1:p.Arg254His",
        "hgvsWellDefined": "XP_011514084.1:p.Arg254His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_011515782.2:c.761G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514084.1:p.Arg254His",
        "hgvsWellDefined": "XP_011514084.1:p.Arg254His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011739.1:c.1589G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867228.1:p.Arg530His",
        "hgvsWellDefined": "XP_016867228.1:p.Arg530His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1803,
          "referenceAllele": "G",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011740.1:c.1565G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867229.1:p.Arg522His",
        "hgvsWellDefined": "XP_016867229.1:p.Arg522His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580103261",
      "coordinates": [
        {
          "allele": "A",
          "end": 2117,
          "referenceAllele": "G",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NM_000083.3:c.2015G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000074.3:p.Arg672His",
        "hgvsWellDefined": "NP_000074.3:p.Arg672His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674691",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343257.7:c.2015G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000083.3:c.2015G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339867.2:p.Arg672His"
          },
          "RefSeq": {
            "hgvs": "NP_000074.3:p.Arg672His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1970,
          "referenceAllele": "G",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NR_046453.2:n.1970G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702503"
    }
  ],
  "type": "nucleotide"
}