{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA405404394",
  "communityStandardTitle": [
    "NM_004646.4(NPHS1):c.1339G>C (p.Glu447Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36339044C>G?assembly=hg19",
        "id": "chr19:g.36339044C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.35848142C>G?assembly=hg38",
        "id": "chr19:g.35848142C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28939695",
        "rs": 28939695
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-35848142-C-G?dataset=gnomad_r4",
        "id": "19-35848142-C-G",
        "variant": "19:35848142 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 35848142,
          "referenceAllele": "C",
          "start": 35848141
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35848142C>G",
        "CM000681.2:g.35848142C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 36339044,
          "referenceAllele": "C",
          "start": 36339043
        }
      ],
      "hgvs": [
        "NC_000019.9:g.36339044C>G",
        "CM000681.1:g.36339044C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 41030884,
          "referenceAllele": "C",
          "start": 41030883
        }
      ],
      "hgvs": [
        "NC_000019.8:g.41030884C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 26146,
          "referenceAllele": "G",
          "start": 26145
        }
      ],
      "hgvs": [
        "NG_013356.2:g.26146G>C",
        "LRG_693:g.26146G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "hgvs": [
        "NG_051206.1:g.1508C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616904"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2006,
          "referenceAllele": "G",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.10:c.1339G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Glu447Gln",
        "hgvsWellDefined": "ENSP00000368190.4:p.Glu447Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.1339G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.1339G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Glu447Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Glu447Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000353632.6:c.1339G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343634.5:p.Glu447Gln",
        "hgvsWellDefined": "ENSP00000343634.5:p.Glu447Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.9:c.1339G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Glu447Gln",
        "hgvsWellDefined": "ENSP00000368190.4:p.Glu447Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000592132.1:n.346G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085856627",
      "coordinates": [
        {
          "allele": "C",
          "end": 1495,
          "referenceAllele": "G",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.3:c.1339G>C",
        "LRG_693t1:c.1339G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Glu447Gln",
        "hgvsWellDefined": "NP_004637.1:p.Glu447Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085856627",
      "coordinates": [
        {
          "allele": "C",
          "end": 2006,
          "referenceAllele": "G",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.4:c.1339G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Glu447Gln",
        "hgvsWellDefined": "NP_004637.1:p.Glu447Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.1339G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.1339G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Glu447Gln"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Glu447Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}