{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121306",
  "communityStandardTitle": [
    "NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1217297",
        "active": true,
        "id": "COSM1217297"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1217298",
        "active": true,
        "id": "COSM1217298"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26064[alleleid]",
        "alleleId": 26064,
        "preferredName": "NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11025",
        "RCV": [
          "RCV000011772",
          "RCV000082793",
          "RCV004549356"
        ],
        "variationId": 11025
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17742490C>T?assembly=hg19",
        "id": "chrX:g.17742490C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.17724370C>T?assembly=hg38",
        "id": "chrX:g.17724370C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/132630322",
        "rs": 132630322
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-17724370-C-T?dataset=gnomad_r4",
        "id": "X-17724370-C-T",
        "variant": "X:17724370 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 17724370,
          "referenceAllele": "C",
          "start": 17724369
        }
      ],
      "hgvs": [
        "NC_000023.11:g.17724370C>T",
        "CM000685.2:g.17724370C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 17742490,
          "referenceAllele": "C",
          "start": 17742489
        }
      ],
      "hgvs": [
        "NC_000023.10:g.17742490C>T",
        "CM000685.1:g.17742490C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 17652411,
          "referenceAllele": "C",
          "start": 17652410
        }
      ],
      "hgvs": [
        "NC_000023.9:g.17652411C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353951,
          "referenceAllele": "C",
          "start": 353950
        }
      ],
      "hgvs": [
        "NG_011553.2:g.353951C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001812"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000615422.2:n.1575C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3060,
          "referenceAllele": "C",
          "start": 3059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000690213.1:n.3060C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1738,
          "referenceAllele": "C",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000676302.1:c.1180C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502262.1:p.Arg394Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776002",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.1180C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.1180C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:p.Arg394Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:p.Arg394Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000380060.7:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369400.3:p.Arg373Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000398097.7:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381170.3:p.Arg217Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "referenceAllele": "C",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000485305.1:n.409C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1570,
          "referenceAllele": "C",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000615422.1:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480113.1:p.Arg214Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "ENST00000617601.4:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478433.1:p.Arg190Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001136024.3:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129496.1:p.Arg217Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.1:c.1180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:p.Arg394Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291868.1:c.586C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278797.1:p.Arg196Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1455,
          "referenceAllele": "C",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.3:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:p.Arg373Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "XM_011545528.1:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543830.1:p.Arg78Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "XM_011545528.2:c.232C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543830.1:p.Arg78Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001136024.4:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129496.1:p.Arg217Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1738,
          "referenceAllele": "C",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291867.2:c.1180C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278796.1:p.Arg394Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682887",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676302.1:c.1180C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001291867.2:c.1180C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502262.1:p.Arg394Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001278796.1:p.Arg394Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_001291868.2:c.586C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278797.1:p.Arg196Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007820",
      "geneNCBI_id": 4810,
      "geneSymbol": "NHS",
      "hgvs": [
        "NM_198270.4:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_938011.1:p.Arg373Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701298"
    }
  ],
  "type": "nucleotide"
}