{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2147702",
  "communityStandardTitle": [
    "NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=438587[alleleid]",
        "alleleId": 438587,
        "preferredName": "NM_000091.5(COL4A3):c.4994G>A (p.Cys1665Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/445315",
        "RCV": [
          "RCV000514326",
          "RCV000673499"
        ],
        "variationId": 445315
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-228176567-G-A",
        "id": "2-228176567-G-A",
        "variant": "2:228176567 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.228176567G>A?assembly=hg19",
        "id": "chr2:g.228176567G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227311851G>A?assembly=hg38",
        "id": "chr2:g.227311851G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376550779",
        "rs": 376550779
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-228176567-G-A?dataset=gnomad_r2_1",
        "id": "2-228176567-G-A",
        "variant": "2:228176567 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227311851-G-A?dataset=gnomad_r3",
        "id": "2-227311851-G-A",
        "variant": "2:227311851 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227311851-G-A?dataset=gnomad_r4",
        "id": "2-227311851-G-A",
        "variant": "2:227311851 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227311851,
          "referenceAllele": "G",
          "start": 227311850
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227311851G>A",
        "CM000664.2:g.227311851G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 228176567,
          "referenceAllele": "G",
          "start": 228176566
        }
      ],
      "hgvs": [
        "NC_000002.11:g.228176567G>A",
        "CM000664.1:g.228176567G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227884811,
          "referenceAllele": "G",
          "start": 227884810
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227884811G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152287,
          "referenceAllele": "G",
          "start": 152286
        }
      ],
      "hgvs": [
        "NG_011591.1:g.152287G>A",
        "LRG_230:g.152287G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2252,
          "referenceAllele": "G",
          "start": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000471862.2:n.2252G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000682257.1:n.216G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 292,
          "referenceAllele": "G",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000682970.1:n.292G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1933,
          "referenceAllele": "G",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000683077.1:n.1933G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2561,
          "referenceAllele": "G",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000684413.1:n.2561G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "referenceAllele": "G",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000684724.1:n.415G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5097,
          "referenceAllele": "G",
          "start": 5096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.8:c.4994G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Cys1665Tyr",
        "hgvsWellDefined": "ENSP00000379823.3:p.Cys1665Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.4994G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.4994G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Cys1665Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Cys1665Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 787,
          "referenceAllele": "G",
          "start": 786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000469504.2:c.787G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493493.1:n.787G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000643388.1:c.507G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495177.1:p.Val169="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5156,
          "referenceAllele": "G",
          "start": 5155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.7:c.4994G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Cys1665Tyr",
        "hgvsWellDefined": "ENSP00000379823.3:p.Cys1665Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000469504.1:n.502G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658655172",
      "coordinates": [
        {
          "allele": "A",
          "end": 5156,
          "referenceAllele": "G",
          "start": 5155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.4:c.4994G>A",
        "LRG_230t1:c.4994G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Cys1665Tyr",
        "hgvsWellDefined": "NP_000082.2:p.Cys1665Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47,
          "endIntronDirection": "-",
          "endIntronOffset": 6195,
          "referenceAllele": "C",
          "start": 47,
          "startIntronDirection": "-",
          "startIntronOffset": 6196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN041067",
      "geneNCBI_id": 654841,
      "geneSymbol": "MFF-DT",
      "hgvs": [
        "NR_102371.1:n.48-6196C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4959,
          "referenceAllele": "G",
          "start": 4958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246276.2:c.4821G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246333.1:p.Val1607="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5027,
          "referenceAllele": "G",
          "start": 5026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.2:c.4889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Cys1630Tyr",
        "hgvsWellDefined": "XP_005246334.1:p.Cys1630Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4188,
          "referenceAllele": "G",
          "start": 4187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.1:c.3755G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Cys1252Tyr",
        "hgvsWellDefined": "XP_011508858.1:p.Cys1252Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4954,
          "referenceAllele": "G",
          "start": 4953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.2:n.4954G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5027,
          "referenceAllele": "G",
          "start": 5026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.3:c.4889G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Cys1630Tyr",
        "hgvsWellDefined": "XP_005246334.1:p.Cys1630Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4188,
          "referenceAllele": "G",
          "start": 4187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.2:c.3755G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Cys1252Tyr",
        "hgvsWellDefined": "XP_011508858.1:p.Cys1252Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4954,
          "referenceAllele": "G",
          "start": 4953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.3:n.4954G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658655172",
      "coordinates": [
        {
          "allele": "A",
          "end": 5097,
          "referenceAllele": "G",
          "start": 5096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.5:c.4994G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Cys1665Tyr",
        "hgvsWellDefined": "NP_000082.2:p.Cys1665Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.4994G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.4994G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Cys1665Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Cys1665Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}