{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117982",
  "communityStandardTitle": [
    "NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21194[alleleid]",
        "alleleId": 21194,
        "preferredName": "NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6155",
        "RCV": [
          "RCV000006530",
          "RCV000681872",
          "RCV001328174"
        ],
        "variationId": 6155
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.101323799G>A?assembly=hg19",
        "id": "chr11:g.101323799G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.101453068G>A?assembly=hg38",
        "id": "chr11:g.101453068G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434394",
        "rs": 121434394
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-101453068-G-A?dataset=gnomad_r4",
        "id": "11-101453068-G-A",
        "variant": "11:101453068 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 101453068,
          "referenceAllele": "G",
          "start": 101453067
        }
      ],
      "hgvs": [
        "NC_000011.10:g.101453068G>A",
        "CM000673.2:g.101453068G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 101323799,
          "referenceAllele": "G",
          "start": 101323798
        }
      ],
      "hgvs": [
        "NC_000011.9:g.101323799G>A",
        "CM000673.1:g.101323799G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 100829009,
          "referenceAllele": "G",
          "start": 100829008
        }
      ],
      "hgvs": [
        "NC_000011.8:g.100829009G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135861,
          "referenceAllele": "C",
          "start": 135860
        }
      ],
      "hgvs": [
        "NG_011476.1:g.135861C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135861,
          "referenceAllele": "C",
          "start": 135860
        }
      ],
      "hgvs": [
        "NG_011476.2:g.135861C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673539"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3187,
          "referenceAllele": "C",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000344327.8:c.2683C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340913.3:p.Arg895Cys",
        "hgvsWellDefined": "ENSP00000340913.3:p.Arg895Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748208",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344327.8:c.2683C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004621.6:c.2683C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340913.3:p.Arg895Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004612.2:p.Arg895Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3108,
          "referenceAllele": "C",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000344327.7:c.2683C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340913.3:p.Arg895Cys",
        "hgvsWellDefined": "ENSP00000340913.3:p.Arg895Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2335,
          "referenceAllele": "C",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000348423.8:c.2335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343672.4:p.Arg779Cys",
        "hgvsWellDefined": "ENSP00000343672.4:p.Arg779Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2518,
          "referenceAllele": "C",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000360497.4:c.2518C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353687.4:p.Arg840Cys",
        "hgvsWellDefined": "ENSP00000353687.4:p.Arg840Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2452,
          "referenceAllele": "C",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000532133.5:c.2449C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435574.1:p.Arg817Cys",
        "hgvsWellDefined": "ENSP00000435574.1:p.Arg817Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096459",
      "coordinates": [
        {
          "allele": "T",
          "end": 3108,
          "referenceAllele": "C",
          "start": 3107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "NM_004621.5:c.2683C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004612.2:p.Arg895Cys",
        "hgvsWellDefined": "NP_004612.2:p.Arg895Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3123,
          "referenceAllele": "C",
          "start": 3122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_006718898.2:c.2608C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718961.1:p.Arg870Cys",
        "hgvsWellDefined": "XP_006718961.1:p.Arg870Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2597,
          "referenceAllele": "C",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_011542968.1:c.2518C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541270.1:p.Arg840Cys",
        "hgvsWellDefined": "XP_011541270.1:p.Arg840Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2717,
          "referenceAllele": "C",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_011542968.3:c.2518C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541270.1:p.Arg840Cys",
        "hgvsWellDefined": "XP_011541270.1:p.Arg840Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2691,
          "referenceAllele": "C",
          "start": 2690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_017018221.2:c.2335C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873710.1:p.Arg779Cys",
        "hgvsWellDefined": "XP_016873710.1:p.Arg779Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3040,
          "referenceAllele": "C",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XR_001747948.2:n.3040C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA096459",
      "coordinates": [
        {
          "allele": "T",
          "end": 3187,
          "referenceAllele": "C",
          "start": 3186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "NM_004621.6:c.2683C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004612.2:p.Arg895Cys",
        "hgvsWellDefined": "NP_004612.2:p.Arg895Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666574",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344327.8:c.2683C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004621.6:c.2683C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340913.3:p.Arg895Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004612.2:p.Arg895Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}