{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2146776",
  "communityStandardTitle": [
    "NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=442420",
        "active": true,
        "id": "COSM442420"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=442421",
        "active": true,
        "id": "COSM442421"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443179[alleleid]",
        "alleleId": 443179,
        "preferredName": "NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/452348",
        "RCV": [
          "RCV000727017",
          "RCV001171326",
          "RCV001195565",
          "RCV001274582",
          "RCV003960238"
        ],
        "variationId": 452348
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-228137792-C-T",
        "id": "2-228137792-C-T",
        "variant": "2:228137792 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.228137792C>T?assembly=hg19",
        "id": "chr2:g.228137792C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227273076C>T?assembly=hg38",
        "id": "chr2:g.227273076C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139361545",
        "rs": 139361545
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-228137792-C-T?dataset=gnomad_r2_1",
        "id": "2-228137792-C-T",
        "variant": "2:228137792 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227273076-C-T?dataset=gnomad_r3",
        "id": "2-227273076-C-T",
        "variant": "2:227273076 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227273076-C-T?dataset=gnomad_r4",
        "id": "2-227273076-C-T",
        "variant": "2:227273076 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 227273076,
          "referenceAllele": "C",
          "start": 227273075
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227273076C>T",
        "CM000664.2:g.227273076C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 228137792,
          "referenceAllele": "C",
          "start": 228137791
        }
      ],
      "hgvs": [
        "NC_000002.11:g.228137792C>T",
        "CM000664.1:g.228137792C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 227846036,
          "referenceAllele": "C",
          "start": 227846035
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227846036C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113512,
          "referenceAllele": "C",
          "start": 113511
        }
      ],
      "hgvs": [
        "NG_011591.1:g.113512C>T",
        "LRG_230:g.113512C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1989,
          "referenceAllele": "C",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.8:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Thr629Met",
        "hgvsWellDefined": "ENSP00000379823.3:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.1886C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.1886C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Thr629Met"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Thr629Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2048,
          "referenceAllele": "C",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.7:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Thr629Met",
        "hgvsWellDefined": "ENSP00000379823.3:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658663666",
      "coordinates": [
        {
          "allele": "T",
          "end": 2048,
          "referenceAllele": "C",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.4:c.1886C>T",
        "LRG_230t1:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Thr629Met",
        "hgvsWellDefined": "NP_000082.2:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 422,
          "endIntronDirection": "-",
          "endIntronOffset": 4306,
          "referenceAllele": "G",
          "start": 422,
          "startIntronDirection": "-",
          "startIntronOffset": 4307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN041067",
      "geneNCBI_id": 654841,
      "geneSymbol": "MFF-DT",
      "hgvs": [
        "NR_102371.1:n.423-4307G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246276.2:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246333.1:p.Thr629Met",
        "hgvsWellDefined": "XP_005246333.1:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.2:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Thr629Met",
        "hgvsWellDefined": "XP_005246334.1:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246280.2:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246337.1:p.Thr629Met",
        "hgvsWellDefined": "XP_005246337.1:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_006712245.2:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712308.1:p.Thr629Met",
        "hgvsWellDefined": "XP_006712308.1:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510555.1:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508857.1:p.Thr629Met",
        "hgvsWellDefined": "XP_011508857.1:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.1:c.647C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Thr216Met",
        "hgvsWellDefined": "XP_011508858.1:p.Thr216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.2:n.2024C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.3:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Thr629Met",
        "hgvsWellDefined": "XP_005246334.1:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246280.3:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246337.1:p.Thr629Met",
        "hgvsWellDefined": "XP_005246337.1:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_006712245.3:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712308.1:p.Thr629Met",
        "hgvsWellDefined": "XP_006712308.1:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.2:c.647C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Thr216Met",
        "hgvsWellDefined": "XP_011508858.1:p.Thr216Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_017003295.1:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858784.1:p.Thr629Met",
        "hgvsWellDefined": "XP_016858784.1:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_001738601.1:n.2024C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.3:n.2024C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658663666",
      "coordinates": [
        {
          "allele": "T",
          "end": 1989,
          "referenceAllele": "C",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.5:c.1886C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Thr629Met",
        "hgvsWellDefined": "NP_000082.2:p.Thr629Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.1886C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.1886C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Thr629Met"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Thr629Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}