{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294058272",
  "communityStandardTitle": [
    "NM_000213.5(ITGB4):c.232G>A (p.Val78Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1896208[alleleid]",
        "alleleId": 1896208,
        "preferredName": "NM_000213.5(ITGB4):c.232G>A (p.Val78Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2168660",
        "RCV": [
          "RCV003100413"
        ],
        "variationId": 2168660
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.73723554G>A?assembly=hg19",
        "id": "chr17:g.73723554G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.75727473G>A?assembly=hg38",
        "id": "chr17:g.75727473G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/557836108",
        "rs": 557836108
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-73723554-G-A?dataset=gnomad_r2_1",
        "id": "17-73723554-G-A",
        "variant": "17:73723554 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75727473-G-A?dataset=gnomad_r3",
        "id": "17-75727473-G-A",
        "variant": "17:75727473 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-75727473-G-A?dataset=gnomad_r4",
        "id": "17-75727473-G-A",
        "variant": "17:75727473 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 75727473,
          "referenceAllele": "G",
          "start": 75727472
        }
      ],
      "hgvs": [
        "NC_000017.11:g.75727473G>A",
        "CM000679.2:g.75727473G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 73723554,
          "referenceAllele": "G",
          "start": 73723553
        }
      ],
      "hgvs": [
        "NC_000017.10:g.73723554G>A",
        "CM000679.1:g.73723554G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 71235149,
          "referenceAllele": "G",
          "start": 71235148
        }
      ],
      "hgvs": [
        "NC_000017.9:g.71235149G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11039,
          "referenceAllele": "G",
          "start": 11038
        }
      ],
      "hgvs": [
        "NG_007372.1:g.11039G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000549"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 396,
          "referenceAllele": "G",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000449880.7:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400217.2:p.Val78Met",
        "hgvsWellDefined": "ENSP00000400217.2:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 396,
          "referenceAllele": "G",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000200181.8:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200181.3:p.Val78Met",
        "hgvsWellDefined": "ENSP00000200181.3:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740140",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200181.8:c.232G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000213.5:c.232G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200181.3:p.Val78Met"
          },
          "RefSeq": {
            "hgvs": "NP_000204.3:p.Val78Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 419,
          "referenceAllele": "G",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000200181.7:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000200181.3:p.Val78Met",
        "hgvsWellDefined": "ENSP00000200181.3:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000449880.6:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400217.2:p.Val78Met",
        "hgvsWellDefined": "ENSP00000400217.2:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300432"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 358,
          "referenceAllele": "G",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000450894.7:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405536.3:p.Val78Met",
        "hgvsWellDefined": "ENSP00000405536.3:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000579662.5:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463651.1:p.Val78Met",
        "hgvsWellDefined": "ENSP00000463651.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 297,
          "referenceAllele": "G",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000580542.5:n.297G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 232,
          "referenceAllele": "G",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "ENST00000584558.5:n.232G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825086677",
      "coordinates": [
        {
          "allele": "A",
          "end": 419,
          "referenceAllele": "G",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_000213.3:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000204.3:p.Val78Met",
        "hgvsWellDefined": "NP_000204.3:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006277"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825274701",
      "coordinates": [
        {
          "allele": "A",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005619.1:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005619.1:p.Val78Met",
        "hgvsWellDefined": "NP_001005619.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007768"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825275593",
      "coordinates": [
        {
          "allele": "A",
          "end": 419,
          "referenceAllele": "G",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005731.1:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005731.1:p.Val78Met",
        "hgvsWellDefined": "NP_001005731.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 297,
          "referenceAllele": "G",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257309.2:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257366.1:p.Val78Met",
        "hgvsWellDefined": "XP_005257366.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061657"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257311.3:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257368.1:p.Val78Met",
        "hgvsWellDefined": "XP_005257368.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 297,
          "referenceAllele": "G",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257312.2:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257369.1:p.Val78Met",
        "hgvsWellDefined": "XP_005257369.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 419,
          "referenceAllele": "G",
          "start": 418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721866.2:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721929.1:p.Val113Met",
        "hgvsWellDefined": "XP_006721929.1:p.Val113Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 416,
          "referenceAllele": "G",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721867.2:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721930.1:p.Val113Met",
        "hgvsWellDefined": "XP_006721930.1:p.Val113Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 413,
          "referenceAllele": "G",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721868.2:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721931.1:p.Val113Met",
        "hgvsWellDefined": "XP_006721931.1:p.Val113Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "referenceAllele": "G",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721870.2:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721933.1:p.Val113Met",
        "hgvsWellDefined": "XP_006721933.1:p.Val113Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 417,
          "referenceAllele": "G",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_011524751.1:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523053.1:p.Val113Met",
        "hgvsWellDefined": "XP_011523053.1:p.Val113Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091872"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825086677",
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_000213.4:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000204.3:p.Val78Met",
        "hgvsWellDefined": "NP_000204.3:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510767"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825275593",
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005731.2:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005731.1:p.Val78Met",
        "hgvsWellDefined": "NP_001005731.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580208217",
      "coordinates": [
        {
          "allele": "A",
          "end": 478,
          "referenceAllele": "G",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001321123.1:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308052.1:p.Val78Met",
        "hgvsWellDefined": "NP_001308052.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 516,
          "referenceAllele": "G",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_005257311.4:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257368.1:p.Val78Met",
        "hgvsWellDefined": "XP_005257368.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721866.3:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721929.1:p.Val113Met",
        "hgvsWellDefined": "XP_006721929.1:p.Val113Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721867.3:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721930.1:p.Val113Met",
        "hgvsWellDefined": "XP_006721930.1:p.Val113Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 437,
          "referenceAllele": "G",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721868.3:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721931.1:p.Val113Met",
        "hgvsWellDefined": "XP_006721931.1:p.Val113Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_006721870.3:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721933.1:p.Val113Met",
        "hgvsWellDefined": "XP_006721933.1:p.Val113Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_011524751.2:c.337G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523053.1:p.Val113Met",
        "hgvsWellDefined": "XP_011523053.1:p.Val113Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825086677",
      "coordinates": [
        {
          "allele": "A",
          "end": 396,
          "referenceAllele": "G",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_000213.5:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000204.3:p.Val78Met",
        "hgvsWellDefined": "NP_000204.3:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200181.8:c.232G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000213.5:c.232G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200181.3:p.Val78Met"
          },
          "RefSeq": {
            "hgvs": "NP_000204.3:p.Val78Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825275593",
      "coordinates": [
        {
          "allele": "A",
          "end": 396,
          "referenceAllele": "G",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005731.3:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005731.1:p.Val78Met",
        "hgvsWellDefined": "NP_001005731.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580208217",
      "coordinates": [
        {
          "allele": "A",
          "end": 347,
          "referenceAllele": "G",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001321123.2:c.232G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308052.1:p.Val78Met",
        "hgvsWellDefined": "NP_001308052.1:p.Val78Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685213"
    }
  ],
  "type": "nucleotide"
}