{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412950399",
  "communityStandardTitle": [
    "NM_014009.4(FOXP3):c.972C>G (p.Phe324Leu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49109659G>C?assembly=hg19",
        "id": "chrX:g.49109659G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.49253198G>C?assembly=hg38",
        "id": "chrX:g.49253198G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 49253198,
          "referenceAllele": "G",
          "start": 49253197
        }
      ],
      "hgvs": [
        "NC_000023.11:g.49253198G>C",
        "CM000685.2:g.49253198G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 49109659,
          "referenceAllele": "G",
          "start": 49109658
        }
      ],
      "hgvs": [
        "NC_000023.10:g.49109659G>C",
        "CM000685.1:g.49109659G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 48996603,
          "referenceAllele": "G",
          "start": 48996602
        }
      ],
      "hgvs": [
        "NC_000023.9:g.48996603G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16630,
          "referenceAllele": "C",
          "start": 16629
        }
      ],
      "hgvs": [
        "NG_007392.1:g.16630C>G",
        "LRG_62:g.16630C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 22734,
          "referenceAllele": "G",
          "start": 22733
        }
      ],
      "hgvs": [
        "NG_021311.2:g.22734G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003555"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376199.7:c.867C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365372.2:p.Phe289Leu",
        "hgvsWellDefined": "ENSP00000365372.2:p.Phe289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376207.10:c.972C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365380.4:p.Phe324Leu",
        "hgvsWellDefined": "ENSP00000365380.4:p.Phe324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376207.10:c.972C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014009.4:c.972C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365380.4:p.Phe324Leu"
          },
          "RefSeq": {
            "hgvs": "NP_054728.2:p.Phe324Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000455775.7:c.1041C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396415.3:p.Phe347Leu",
        "hgvsWellDefined": "ENSP00000396415.3:p.Phe347Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756528"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000518685.6:c.891C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428952.2:p.Phe297Leu",
        "hgvsWellDefined": "ENSP00000428952.2:p.Phe297Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000557224.6:c.867C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451208.1:p.Phe289Leu",
        "hgvsWellDefined": "ENSP00000451208.1:p.Phe289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760192"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "endIntronDirection": "+",
          "endIntronOffset": 719,
          "referenceAllele": "C",
          "start": 989,
          "startIntronDirection": "+",
          "startIntronOffset": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000651307.1:c.967+719C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498454.1:n.967+719C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771589"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376197.1:c.822C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365369.1:p.Phe274Leu",
        "hgvsWellDefined": "ENSP00000365369.1:p.Phe274Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376199.6:c.867C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365372.2:p.Phe289Leu",
        "hgvsWellDefined": "ENSP00000365372.2:p.Phe289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1160,
          "referenceAllele": "C",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000376207.8:c.972C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365380.4:p.Phe324Leu",
        "hgvsWellDefined": "ENSP00000365380.4:p.Phe324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271057"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000455775.6:c.1041C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396415.3:p.Phe347Leu",
        "hgvsWellDefined": "ENSP00000396415.3:p.Phe347Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000518685.5:c.867C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428952.1:p.Phe289Leu",
        "hgvsWellDefined": "ENSP00000428952.1:p.Phe289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "ENST00000557224.5:c.867C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451208.1:p.Phe289Leu",
        "hgvsWellDefined": "ENSP00000451208.1:p.Phe289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372848"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255870",
      "coordinates": [
        {
          "allele": "G",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_001114377.1:c.867C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107849.1:p.Phe289Leu",
        "hgvsWellDefined": "NP_001107849.1:p.Phe289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255871",
      "coordinates": [
        {
          "allele": "G",
          "end": 1160,
          "referenceAllele": "C",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_014009.3:c.972C>G",
        "LRG_62t1:c.972C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054728.2:p.Phe324Leu",
        "hgvsWellDefined": "NP_054728.2:p.Phe324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_006724533.2:c.1041C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724596.2:p.Phe347Leu",
        "hgvsWellDefined": "XP_006724596.2:p.Phe347Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075567"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2734,
          "referenceAllele": "C",
          "start": 2733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543915.1:c.1191C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542217.1:p.Phe397Leu",
        "hgvsWellDefined": "XP_011542217.1:p.Phe397Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110828"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2576,
          "referenceAllele": "C",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543916.1:c.1191C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542218.1:p.Phe397Leu",
        "hgvsWellDefined": "XP_011542218.1:p.Phe397Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543917.1:c.990C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542219.1:p.Phe330Leu",
        "hgvsWellDefined": "XP_011542219.1:p.Phe330Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2764,
          "referenceAllele": "C",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543918.1:c.1227C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542220.1:p.Phe409Leu",
        "hgvsWellDefined": "XP_011542220.1:p.Phe409Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2726,
          "referenceAllele": "C",
          "start": 2725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_011543919.1:c.1191C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542221.1:p.Phe397Leu",
        "hgvsWellDefined": "XP_011542221.1:p.Phe397Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "XM_017029567.1:c.918C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885056.1:p.Phe306Leu",
        "hgvsWellDefined": "XP_016885056.1:p.Phe306Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579085"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255870",
      "coordinates": [
        {
          "allele": "G",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_001114377.2:c.867C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107849.1:p.Phe289Leu",
        "hgvsWellDefined": "NP_001107849.1:p.Phe289Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676745"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255871",
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006106",
      "geneNCBI_id": 50943,
      "geneSymbol": "FOXP3",
      "hgvs": [
        "NM_014009.4:c.972C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_054728.2:p.Phe324Leu",
        "hgvsWellDefined": "NP_054728.2:p.Phe324Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697169",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376207.10:c.972C>G"
          },
          "RefSeq": {
            "hgvs": "NM_014009.4:c.972C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365380.4:p.Phe324Leu"
          },
          "RefSeq": {
            "hgvs": "NP_054728.2:p.Phe324Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}