{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2146490",
  "communityStandardTitle": [
    "NM_000091.5(COL4A3):c.1022G>A (p.Arg341His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1017322",
        "active": true,
        "id": "COSM1017322"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=590263[alleleid]",
        "alleleId": 590263,
        "preferredName": "NM_000091.5(COL4A3):c.1022G>A (p.Arg341His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/599070",
        "RCV": [
          "RCV000735662",
          "RCV001574377",
          "RCV002499386"
        ],
        "variationId": 599070
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-228122353-G-A",
        "id": "2-228122353-G-A",
        "variant": "2:228122353 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.228122353G>A?assembly=hg19",
        "id": "chr2:g.228122353G>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.228122353_228122354delinsAT?assembly=hg19",
        "id": "chr2:g.228122353_228122354delinsAT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227257637G>A?assembly=hg38",
        "id": "chr2:g.227257637G>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227257637_227257638delinsAT?assembly=hg38",
        "id": "chr2:g.227257637_227257638delinsAT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200738124",
        "rs": 200738124
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-228122353-G-A?dataset=gnomad_r2_1",
        "id": "2-228122353-G-A",
        "variant": "2:228122353 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227257637-G-A?dataset=gnomad_r3",
        "id": "2-227257637-G-A",
        "variant": "2:227257637 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227257637-G-A?dataset=gnomad_r4",
        "id": "2-227257637-G-A",
        "variant": "2:227257637 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227257637,
          "referenceAllele": "G",
          "start": 227257636
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227257637G>A",
        "CM000664.2:g.227257637G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 228122353,
          "referenceAllele": "G",
          "start": 228122352
        }
      ],
      "hgvs": [
        "NC_000002.11:g.228122353G>A",
        "CM000664.1:g.228122353G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227830597,
          "referenceAllele": "G",
          "start": 227830596
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227830597G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 98073,
          "referenceAllele": "G",
          "start": 98072
        }
      ],
      "hgvs": [
        "NG_011591.1:g.98073G>A",
        "LRG_230:g.98073G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.8:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Arg341His",
        "hgvsWellDefined": "ENSP00000379823.3:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.1022G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.1022G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Arg341His"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Arg341His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.7:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Arg341His",
        "hgvsWellDefined": "ENSP00000379823.3:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191504",
      "coordinates": [
        {
          "allele": "A",
          "end": 1184,
          "referenceAllele": "G",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.4:c.1022G>A",
        "LRG_230t1:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Arg341His",
        "hgvsWellDefined": "NP_000082.2:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1592,
          "endIntronDirection": "+",
          "endIntronOffset": 1541,
          "referenceAllele": "C",
          "start": 1592,
          "startIntronDirection": "+",
          "startIntronOffset": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN041067",
      "geneNCBI_id": 654841,
      "geneSymbol": "MFF-DT",
      "hgvs": [
        "NR_102371.1:n.1592+1541C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246276.2:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246333.1:p.Arg341His",
        "hgvsWellDefined": "XP_005246333.1:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.2:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Arg341His",
        "hgvsWellDefined": "XP_005246334.1:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246280.2:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246337.1:p.Arg341His",
        "hgvsWellDefined": "XP_005246337.1:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_006712245.2:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712308.1:p.Arg341His",
        "hgvsWellDefined": "XP_006712308.1:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510555.1:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508857.1:p.Arg341His",
        "hgvsWellDefined": "XP_011508857.1:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.1:c.-214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:n.-214G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.2:n.1160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.3:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Arg341His",
        "hgvsWellDefined": "XP_005246334.1:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246280.3:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246337.1:p.Arg341His",
        "hgvsWellDefined": "XP_005246337.1:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_006712245.3:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712308.1:p.Arg341His",
        "hgvsWellDefined": "XP_006712308.1:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.2:c.-214G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:n.-214G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_017003295.1:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858784.1:p.Arg341His",
        "hgvsWellDefined": "XP_016858784.1:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_001738601.1:n.1160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1160,
          "referenceAllele": "G",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.3:n.1160G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191504",
      "coordinates": [
        {
          "allele": "A",
          "end": 1125,
          "referenceAllele": "G",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.5:c.1022G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Arg341His",
        "hgvsWellDefined": "NP_000082.2:p.Arg341His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.1022G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.1022G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Arg341His"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Arg341His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}