{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279700627",
  "communityStandardTitle": [
    "NM_000418.4(IL4R):c.223A>T (p.Ile75Phe)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.27356203A>T?assembly=hg19",
        "id": "chr16:g.27356203A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.27344882A>T?assembly=hg38",
        "id": "chr16:g.27344882A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1805010",
        "rs": 1805010
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 27344882,
          "referenceAllele": "A",
          "start": 27344881
        }
      ],
      "hgvs": [
        "NC_000016.10:g.27344882A>T",
        "CM000678.2:g.27344882A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 27356203,
          "referenceAllele": "A",
          "start": 27356202
        }
      ],
      "hgvs": [
        "NC_000016.9:g.27356203A>T",
        "CM000678.1:g.27356203A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 27263704,
          "referenceAllele": "A",
          "start": 27263703
        }
      ],
      "hgvs": [
        "NC_000016.8:g.27263704A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35953,
          "referenceAllele": "A",
          "start": 35952
        }
      ],
      "hgvs": [
        "NG_012086.1:g.35953A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "referenceAllele": "A",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "ENST00000395762.7:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379111.2:p.Ile75Phe",
        "hgvsWellDefined": "ENSP00000379111.2:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395762.7:c.223A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000418.4:c.223A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379111.2:p.Ile75Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000409.1:p.Ile75Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 178,
          "referenceAllele": "A",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "ENST00000170630.6:c.178A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000170630.3:p.Ile60Phe",
        "hgvsWellDefined": "ENSP00000170630.3:p.Ile60Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "A",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "ENST00000395762.6:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379111.2:p.Ile75Phe",
        "hgvsWellDefined": "ENSP00000379111.2:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 336,
          "referenceAllele": "A",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "ENST00000543915.6:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441667.2:p.Ile75Phe",
        "hgvsWellDefined": "ENSP00000441667.2:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "referenceAllele": "A",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "ENST00000561946.5:n.403A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376458"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 403,
          "referenceAllele": "A",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "ENST00000563002.5:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456930.1:p.Ile75Phe",
        "hgvsWellDefined": "ENSP00000456930.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 544,
          "referenceAllele": "A",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "ENST00000563787.1:n.544A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "referenceAllele": "A",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "ENST00000565696.1:n.243A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "A",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "ENST00000566117.5:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455632.1:p.Ile75Phe",
        "hgvsWellDefined": "ENSP00000455632.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "ENST00000566318.5:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456248.1:p.Ile75Phe",
        "hgvsWellDefined": "ENSP00000456248.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "A",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "ENST00000568746.5:c.*266A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455714.1:n.*266A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082802139",
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "A",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "NM_000418.3:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000409.1:p.Ile75Phe",
        "hgvsWellDefined": "NP_000409.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "A",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "NM_001257406.1:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244335.1:p.Ile75Phe",
        "hgvsWellDefined": "NP_001244335.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "A",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "NM_001257407.1:c.178A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244336.1:p.Ile60Phe",
        "hgvsWellDefined": "NP_001244336.1:p.Ile60Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "A",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "NM_001257997.1:c.-253A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244926.1:n.-253A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019664"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "A",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545825.1:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544127.1:p.Ile75Phe",
        "hgvsWellDefined": "XP_011544127.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545826.1:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544128.1:p.Ile75Phe",
        "hgvsWellDefined": "XP_011544128.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "A",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545827.1:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544129.1:p.Ile75Phe",
        "hgvsWellDefined": "XP_011544129.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "referenceAllele": "A",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545828.1:c.-45A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544130.1:n.-45A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 472,
          "referenceAllele": "A",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545829.1:c.78A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544131.1:p.Val26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "A",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545830.1:c.78A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544132.1:p.Val26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "A",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545831.1:c.78A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544133.1:p.Val26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545832.1:c.78A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544134.1:p.Val26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "referenceAllele": "A",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545833.1:c.78A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544135.1:p.Val26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 169,
          "referenceAllele": "A",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545834.1:c.-49A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544136.1:n.-49A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545826.2:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544128.1:p.Ile75Phe",
        "hgvsWellDefined": "XP_011544128.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1681,
          "referenceAllele": "A",
          "start": 1680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545827.2:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544129.1:p.Ile75Phe",
        "hgvsWellDefined": "XP_011544129.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 159,
          "referenceAllele": "A",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545828.2:c.-45A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544130.1:n.-45A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1682,
          "referenceAllele": "A",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545830.2:c.78A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544132.1:p.Val26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 242,
          "referenceAllele": "A",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545833.2:c.78A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544135.1:p.Val26="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 161,
          "referenceAllele": "A",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_011545834.2:c.-49A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011544136.1:n.-49A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "A",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "XM_017023211.1:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878700.1:p.Ile75Phe",
        "hgvsWellDefined": "XP_016878700.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082802139",
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "referenceAllele": "A",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "NM_000418.4:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000409.1:p.Ile75Phe",
        "hgvsWellDefined": "NP_000409.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662431",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395762.7:c.223A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000418.4:c.223A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379111.2:p.Ile75Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000409.1:p.Ile75Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "NM_001257406.2:c.223A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244335.1:p.Ile75Phe",
        "hgvsWellDefined": "NP_001244335.1:p.Ile75Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "NM_001257407.2:c.178A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244336.1:p.Ile60Phe",
        "hgvsWellDefined": "NP_001244336.1:p.Ile60Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006015",
      "geneNCBI_id": 3566,
      "geneSymbol": "IL4R",
      "hgvs": [
        "NM_001257997.2:c.-253A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244926.1:n.-253A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680753"
    }
  ],
  "type": "nucleotide"
}