{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1666389927",
  "communityStandardTitle": [
    "NM_000416.3(IFNGR1):c.85+3925C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1327475",
        "rs": 1327475
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 137215318,
          "referenceAllele": "G",
          "start": 137215317
        }
      ],
      "hgvs": [
        "NC_000006.12:g.137215318G=",
        "CM000668.2:g.137215318G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 137536455,
          "referenceAllele": "G",
          "start": 137536454
        }
      ],
      "hgvs": [
        "NC_000006.11:g.137536455G=",
        "CM000668.1:g.137536455G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "G",
          "end": 137578148,
          "referenceAllele": "G",
          "start": 137578147
        }
      ],
      "hgvs": [
        "NC_000006.10:g.137578148G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9113,
          "referenceAllele": "C",
          "start": 9112
        }
      ],
      "hgvs": [
        "NG_007394.1:g.9113C=",
        "LRG_66:g.9113C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000562"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 267,
          "referenceAllele": "C",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000414770.6:c.4C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394230.2:p.Leu2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000458076.6:c.85+3925C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389249.2:n.85+3925C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 33,
          "endIntronDirection": "+",
          "endIntronOffset": 2710,
          "referenceAllele": "C",
          "start": 33,
          "startIntronDirection": "+",
          "startIntronOffset": 2709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696693.1:c.-39+2710C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512814.1:n.-39+2710C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 143,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696694.1:c.85+3925C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512815.1:n.85+3925C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 170,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 170,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696695.1:c.85+3925C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512816.1:n.85+3925C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 123,
          "endIntronDirection": "-",
          "endIntronOffset": 1485,
          "referenceAllele": "C",
          "start": 123,
          "startIntronDirection": "-",
          "startIntronOffset": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696696.1:c.86-1486C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512817.1:n.86-1486C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 123,
          "referenceAllele": "C",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696697.1:c.-103C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512818.1:n.-103C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696698.1:c.85+3925C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512819.1:n.85+3925C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "endIntronDirection": "+",
          "endIntronOffset": 3133,
          "referenceAllele": "C",
          "start": 111,
          "startIntronDirection": "+",
          "startIntronOffset": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000696699.1:c.1+3133C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512820.1:n.1+3133C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 143,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000367739.9:c.85+3925C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356713.5:n.85+3925C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750072",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367739.9:c.85+3925C="
          },
          "RefSeq": {
            "hgvs": "NM_000416.3:c.85+3925C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356713.5:n.85+3925C="
          },
          "RefSeq": {
            "hgvs": "NP_000407.1:n.85+3925C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 81,
          "endIntronDirection": "+",
          "endIntronOffset": 3666,
          "referenceAllele": "C",
          "start": 81,
          "startIntronDirection": "+",
          "startIntronOffset": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000642390.1:c.-96+3666C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496468.1:n.-96+3666C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766715"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 70,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000643119.1:c.70+3925C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495934.1:n.70+3925C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 573,
          "endIntronDirection": "+",
          "endIntronOffset": 3354,
          "referenceAllele": "C",
          "start": 573,
          "startIntronDirection": "+",
          "startIntronOffset": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000644894.1:c.-39+3354C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495272.1:n.-39+3354C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 71,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000645045.1:c.71+3925C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29,
          "endIntronDirection": "+",
          "endIntronOffset": 3776,
          "referenceAllele": "C",
          "start": 29,
          "startIntronDirection": "+",
          "startIntronOffset": 3775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000645753.1:c.-39+3776C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495103.1:n.-39+3776C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000646036.1:c.4C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496387.1:p.Leu2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000646898.1:c.4C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494069.1:p.Leu2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45,
          "endIntronDirection": "+",
          "endIntronOffset": 3666,
          "referenceAllele": "C",
          "start": 45,
          "startIntronDirection": "+",
          "startIntronOffset": 3665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000647124.1:c.-39+3666C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496549.1:n.-39+3666C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769247"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000367739.8:c.85+3925C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356713.4:n.85+3925C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 267,
          "referenceAllele": "C",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000414770.5:c.4C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394230.1:p.Leu2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000458076.5:c.85+3925C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389249.1:n.85+3925C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000478333.1:n.207+3925C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 128,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 128,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "ENST00000543628.5:c.85+3925C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443282.2:n.85+3925C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364105"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 188,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 188,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "NM_000416.2:c.85+3925C=",
        "LRG_66t1:c.85+3925C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000407.1:n.85+3925C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006478"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_006715470.2:c.4C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715533.1:p.Leu2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071177"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "endIntronDirection": "+",
          "endIntronOffset": 3354,
          "referenceAllele": "C",
          "start": 438,
          "startIntronDirection": "+",
          "startIntronOffset": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_006715471.2:c.-39+3354C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715534.1:n.-39+3354C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071178"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_011535793.1:c.4C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534095.1:p.Leu2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_011535794.1:c.4C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534096.1:p.Leu2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072126686",
      "coordinates": [
        {
          "allele": "C",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "NM_001363526.1:c.4C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350455.1:p.Leu2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 3354,
          "referenceAllele": "C",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "NM_001363527.1:c.-39+3354C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350456.1:n.-39+3354C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_006715470.3:c.4C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006715533.1:p.Leu2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1169,
          "referenceAllele": "C",
          "start": 1168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "XM_011535793.2:c.4C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534095.1:p.Leu2="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "endIntronDirection": "+",
          "endIntronOffset": 3925,
          "referenceAllele": "C",
          "start": 143,
          "startIntronDirection": "+",
          "startIntronOffset": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005439",
      "geneNCBI_id": 3459,
      "geneSymbol": "IFNGR1",
      "hgvs": [
        "NM_000416.3:c.85+3925C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000407.1:n.85+3925C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674838",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367739.9:c.85+3925C="
          },
          "RefSeq": {
            "hgvs": "NM_000416.3:c.85+3925C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356713.5:n.85+3925C="
          },
          "RefSeq": {
            "hgvs": "NP_000407.1:n.85+3925C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}