{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6244296",
  "communityStandardTitle": [
    "NM_004621.6(TRPC6):c.1611C>T (p.Phe537=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2107569",
        "active": true,
        "id": "COSM2107569"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=976124[alleleid]",
        "alleleId": 976124,
        "preferredName": "NM_004621.6(TRPC6):c.1611C>T (p.Phe537=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988134",
        "RCV": [
          "RCV001328110",
          "RCV001460868"
        ],
        "variationId": 988134
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-101347165-G-A",
        "id": "11-101347165-G-A",
        "variant": "11:101347165 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.101347165G>A?assembly=hg19",
        "id": "chr11:g.101347165G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.101476434G>A?assembly=hg38",
        "id": "chr11:g.101476434G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/150183033",
        "rs": 150183033
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-101347165-G-A?dataset=gnomad_r2_1",
        "id": "11-101347165-G-A",
        "variant": "11:101347165 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-101476434-G-A?dataset=gnomad_r3",
        "id": "11-101476434-G-A",
        "variant": "11:101476434 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-101476434-G-A?dataset=gnomad_r4",
        "id": "11-101476434-G-A",
        "variant": "11:101476434 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 101476434,
          "referenceAllele": "G",
          "start": 101476433
        }
      ],
      "hgvs": [
        "NC_000011.10:g.101476434G>A",
        "CM000673.2:g.101476434G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 101347165,
          "referenceAllele": "G",
          "start": 101347164
        }
      ],
      "hgvs": [
        "NC_000011.9:g.101347165G>A",
        "CM000673.1:g.101347165G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 100852375,
          "referenceAllele": "G",
          "start": 100852374
        }
      ],
      "hgvs": [
        "NC_000011.8:g.100852375G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112495,
          "referenceAllele": "C",
          "start": 112494
        }
      ],
      "hgvs": [
        "NG_011476.1:g.112495C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112495,
          "referenceAllele": "C",
          "start": 112494
        }
      ],
      "hgvs": [
        "NG_011476.2:g.112495C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673539"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2115,
          "referenceAllele": "C",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000344327.8:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340913.3:p.Phe537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748208",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344327.8:c.1611C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004621.6:c.1611C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340913.3:p.Phe537="
          },
          "RefSeq": {
            "hgvs": "NP_004612.2:p.Phe537="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2036,
          "referenceAllele": "C",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000344327.7:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340913.3:p.Phe537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000348423.8:c.1263C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343672.4:p.Phe421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "C",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000360497.4:c.1446C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353687.4:p.Phe482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1513,
          "endIntronDirection": "-",
          "endIntronOffset": 2660,
          "referenceAllele": "C",
          "start": 1513,
          "startIntronDirection": "-",
          "startIntronOffset": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "ENST00000532133.5:c.1511-2661C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435574.1:n.1511-2661C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357113"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829556118",
      "coordinates": [
        {
          "allele": "T",
          "end": 2036,
          "referenceAllele": "C",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "NM_004621.5:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004612.2:p.Phe537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2126,
          "referenceAllele": "C",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_006718898.2:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718961.1:p.Phe537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_011542968.1:c.1446C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541270.1:p.Phe482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2126,
          "referenceAllele": "C",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_011542969.1:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541271.1:p.Phe537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1645,
          "referenceAllele": "C",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_011542968.3:c.1446C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541270.1:p.Phe482="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XM_017018221.2:c.1263C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873710.1:p.Phe421="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1967,
          "referenceAllele": "C",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "XR_001747948.2:n.1967C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829556118",
      "coordinates": [
        {
          "allele": "T",
          "end": 2115,
          "referenceAllele": "C",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012338",
      "geneNCBI_id": 7225,
      "geneSymbol": "TRPC6",
      "hgvs": [
        "NM_004621.6:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004612.2:p.Phe537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666574",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344327.8:c.1611C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004621.6:c.1611C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340913.3:p.Phe537="
          },
          "RefSeq": {
            "hgvs": "NP_004612.2:p.Phe537="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}