{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257307",
  "communityStandardTitle": [
    "NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29777[alleleid]",
        "alleleId": 29777,
        "preferredName": "NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14738",
        "RCV": [
          "RCV000015859"
        ],
        "variationId": 14738
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73723307T>C?assembly=hg19",
        "id": "chr17:g.73723307T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75727227T>C?assembly=hg38",
        "id": "chr17:g.75727227T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912465",
        "rs": 121912465
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75727227-T-C?dataset=gnomad_r4",
        "id": "17-75727227-T-C",
        "variant": "17:75727227 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 75727227,
          "referenceAllele": "T",
          "start": 75727226
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75727227T>C",
        "CM000679.2:g.75727227T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 73723307,
          "referenceAllele": "T",
          "start": 73723306
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73723307T>C",
        "CM000679.1:g.73723307T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 71234902,
          "referenceAllele": "T",
          "start": 71234901
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71234902T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10792,
          "referenceAllele": "T",
          "start": 10791
        }
      ],
      "hgvs": [
        "NG_007372.1:g.10792T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000549"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "referenceAllele": "T",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000449880.7:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400217.2:p.Cys38Arg",
        "hgvsWellDefined": "ENSP00000400217.2:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904987"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "referenceAllele": "T",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000200181.8:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200181.3:p.Cys38Arg",
        "hgvsWellDefined": "ENSP00000200181.3:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740140",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200181.8:c.112T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000213.5:c.112T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200181.3:p.Cys38Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000204.3:p.Cys38Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000200181.7:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200181.3:p.Cys38Arg",
        "hgvsWellDefined": "ENSP00000200181.3:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "referenceAllele": "T",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000449880.6:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400217.2:p.Cys38Arg",
        "hgvsWellDefined": "ENSP00000400217.2:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "T",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000450894.7:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405536.3:p.Cys38Arg",
        "hgvsWellDefined": "ENSP00000405536.3:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000579662.5:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463651.1:p.Cys38Arg",
        "hgvsWellDefined": "ENSP00000463651.1:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 177,
          "referenceAllele": "T",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000580542.5:n.177T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386374"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 112,
          "referenceAllele": "T",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000584558.5:n.112T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109771",
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_000213.3:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000204.3:p.Cys38Arg",
        "hgvsWellDefined": "NP_000204.3:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006277"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274675",
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "referenceAllele": "T",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005619.1:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005619.1:p.Cys38Arg",
        "hgvsWellDefined": "NP_001005619.1:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007768"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825275567",
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005731.1:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005731.1:p.Cys38Arg",
        "hgvsWellDefined": "NP_001005731.1:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 177,
          "referenceAllele": "T",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257309.2:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257366.1:p.Cys38Arg",
        "hgvsWellDefined": "XP_005257366.1:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061657"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 393,
          "referenceAllele": "T",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257311.3:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257368.1:p.Cys38Arg",
        "hgvsWellDefined": "XP_005257368.1:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 177,
          "referenceAllele": "T",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257312.2:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257369.1:p.Cys38Arg",
        "hgvsWellDefined": "XP_005257369.1:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721866.2:c.217T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721929.1:p.Cys73Arg",
        "hgvsWellDefined": "XP_006721929.1:p.Cys73Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074288"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296,
          "referenceAllele": "T",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721867.2:c.217T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721930.1:p.Cys73Arg",
        "hgvsWellDefined": "XP_006721930.1:p.Cys73Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 293,
          "referenceAllele": "T",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721868.2:c.217T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721931.1:p.Cys73Arg",
        "hgvsWellDefined": "XP_006721931.1:p.Cys73Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 290,
          "referenceAllele": "T",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721870.2:c.217T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721933.1:p.Cys73Arg",
        "hgvsWellDefined": "XP_006721933.1:p.Cys73Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 297,
          "referenceAllele": "T",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_011524751.1:c.217T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523053.1:p.Cys73Arg",
        "hgvsWellDefined": "XP_011523053.1:p.Cys73Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091872"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109771",
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "referenceAllele": "T",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_000213.4:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000204.3:p.Cys38Arg",
        "hgvsWellDefined": "NP_000204.3:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510767"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825275567",
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "referenceAllele": "T",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005731.2:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005731.1:p.Cys38Arg",
        "hgvsWellDefined": "NP_001005731.1:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024796",
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001321123.1:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308052.1:p.Cys38Arg",
        "hgvsWellDefined": "NP_001308052.1:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514056"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "T",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257311.4:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257368.1:p.Cys38Arg",
        "hgvsWellDefined": "XP_005257368.1:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534638"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "referenceAllele": "T",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721866.3:c.217T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721929.1:p.Cys73Arg",
        "hgvsWellDefined": "XP_006721929.1:p.Cys73Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 320,
          "referenceAllele": "T",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721867.3:c.217T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721930.1:p.Cys73Arg",
        "hgvsWellDefined": "XP_006721930.1:p.Cys73Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 317,
          "referenceAllele": "T",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721868.3:c.217T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721931.1:p.Cys73Arg",
        "hgvsWellDefined": "XP_006721931.1:p.Cys73Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 313,
          "referenceAllele": "T",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721870.3:c.217T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721933.1:p.Cys73Arg",
        "hgvsWellDefined": "XP_006721933.1:p.Cys73Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321,
          "referenceAllele": "T",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_011524751.2:c.217T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523053.1:p.Cys73Arg",
        "hgvsWellDefined": "XP_011523053.1:p.Cys73Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109771",
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "referenceAllele": "T",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_000213.5:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000204.3:p.Cys38Arg",
        "hgvsWellDefined": "NP_000204.3:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200181.8:c.112T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000213.5:c.112T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200181.3:p.Cys38Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000204.3:p.Cys38Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825275567",
      "coordinates": [
        {
          "allele": "C",
          "end": 276,
          "referenceAllele": "T",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005731.3:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005731.1:p.Cys38Arg",
        "hgvsWellDefined": "NP_001005731.1:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916024796",
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "T",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001321123.2:c.112T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308052.1:p.Cys38Arg",
        "hgvsWellDefined": "NP_001308052.1:p.Cys38Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685213"
    }
  ],
  "type": "nucleotide"
}