{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA516569820", "communityStandardTitle": [ "NM_014009.4(FOXP3):c.1189C>A (p.Arg397=)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.49107902G>T?assembly=hg19", "id": "chrX:g.49107902G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/28935477", "rs": 28935477 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/X-49251441-G-T?dataset=gnomad_r4", "id": "X-49251441-G-T", "variant": "X:49251441 G / T" } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 49251441, "referenceAllele": "G", "start": 49251440 } ], "hgvs": [ "NC_000023.11:g.49251441G>T", "CM000685.2:g.49251441G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 49107902, "referenceAllele": "G", "start": 49107901 } ], "hgvs": [ "NC_000023.10:g.49107902G>T", "CM000685.1:g.49107902G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 48994846, "referenceAllele": "G", "start": 48994845 } ], "hgvs": [ "NC_000023.9:g.48994846G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "A", "end": 18387, "referenceAllele": "C", "start": 18386 } ], "hgvs": [ "NG_007392.1:g.18387C>A", "LRG_62:g.18387C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000561" }, { "coordinates": [ { "allele": "T", "end": 20977, "referenceAllele": "G", "start": 20976 } ], "hgvs": [ "NG_021311.2:g.20977G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003555" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1246, "referenceAllele": "C", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000376199.7:c.1084C>A" ], "proteinEffect": { "hgvs": "ENSP00000365372.2:p.Arg362=" }, "referenceSequence": "http://reg.genome.network/refseq/RS751726" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000376207.10:c.1189C>A" ], "proteinEffect": { "hgvs": "ENSP00000365380.4:p.Arg397=" }, "referenceSequence": "http://reg.genome.network/refseq/RS751728", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376207.10:c.1189C>A" }, "RefSeq": { "hgvs": "NM_014009.4:c.1189C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365380.4:p.Arg397=" }, "RefSeq": { "hgvs": "NP_054728.2:p.Arg397=" } } } }, { "coordinates": [ { "allele": "A", "end": 1288, "referenceAllele": "C", "start": 1287 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000455775.7:c.1258C>A" ], "proteinEffect": { "hgvs": "ENSP00000396415.3:p.Arg420=" }, "referenceSequence": "http://reg.genome.network/refseq/RS756528" }, { "coordinates": [ { "allele": "A", "end": 1108, "referenceAllele": "C", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000518685.6:c.1108C>A" ], "proteinEffect": { "hgvs": "ENSP00000428952.2:p.Arg370=" }, "referenceSequence": "http://reg.genome.network/refseq/RS758617" }, { "coordinates": [ { "allele": "A", "end": 1336, "referenceAllele": "C", "start": 1335 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000557224.6:c.1264C>A" ], "proteinEffect": { "hgvs": "ENSP00000451208.1:p.Arg422=" }, "referenceSequence": "http://reg.genome.network/refseq/RS760192" }, { "coordinates": [ { "allele": "A", "end": 1134, "referenceAllele": "C", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000651307.1:c.*104C>A" ], "proteinEffect": { "hgvs": "ENSP00000498454.1:n.*104C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS771589" }, { "coordinates": [ { "allele": "A", "end": 1219, "referenceAllele": "C", "start": 1218 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000376197.1:c.1219C>A" ], "proteinEffect": { "hgvs": "ENSP00000365369.1:p.Arg407=" }, "referenceSequence": "http://reg.genome.network/refseq/RS271054" }, { "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000376199.6:c.1084C>A" ], "proteinEffect": { "hgvs": "ENSP00000365372.2:p.Arg362=" }, "referenceSequence": "http://reg.genome.network/refseq/RS271055" }, { "coordinates": [ { "allele": "A", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000376207.8:c.1189C>A" ], "proteinEffect": { "hgvs": "ENSP00000365380.4:p.Arg397=" }, "referenceSequence": "http://reg.genome.network/refseq/RS271057" }, { "coordinates": [ { "allele": "A", "end": 1446, "referenceAllele": "C", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000455775.6:c.1258C>A" ], "proteinEffect": { "hgvs": "ENSP00000396415.3:p.Arg420=" }, "referenceSequence": "http://reg.genome.network/refseq/RS303198" }, { "coordinates": [ { "allele": "A", "end": 1106, "referenceAllele": "C", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000518685.5:c.1084C>A" ], "proteinEffect": { "hgvs": "ENSP00000428952.1:p.Arg362=" }, "referenceSequence": "http://reg.genome.network/refseq/RS346082" }, { "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "ENST00000557224.5:c.1264C>A" ], "proteinEffect": { "hgvs": "ENSP00000451208.1:p.Arg422=" }, "referenceSequence": "http://reg.genome.network/refseq/RS372848" }, { "@id": "http://reg.genome.network/allele/PA2825571779", "coordinates": [ { "allele": "A", "end": 1272, "referenceAllele": "C", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "NM_001114377.1:c.1084C>A" ], "proteinEffect": { "hgvs": "NP_001107849.1:p.Arg362=" }, "referenceSequence": "http://reg.genome.network/refseq/RS011319" }, { "@id": "http://reg.genome.network/allele/PA2829753799", "coordinates": [ { "allele": "A", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "NM_014009.3:c.1189C>A", "LRG_62t1:c.1189C>A" ], "proteinEffect": { "hgvs": "NP_054728.2:p.Arg397=" }, "referenceSequence": "http://reg.genome.network/refseq/RS032870" }, { "coordinates": [ { "allele": "A", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "XM_006724533.2:c.1258C>A" ], "proteinEffect": { "hgvs": "XP_006724596.2:p.Arg420=" }, "referenceSequence": "http://reg.genome.network/refseq/RS075567" }, { "coordinates": [ { "allele": "A", "end": 3131, "referenceAllele": "C", "start": 3130 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "XM_011543915.1:c.1588C>A" ], "proteinEffect": { "hgvs": "XP_011542217.1:p.Arg530=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110828" }, { "coordinates": [ { "allele": "A", "end": 2973, "referenceAllele": "C", "start": 2972 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "XM_011543916.1:c.1588C>A" ], "proteinEffect": { "hgvs": "XP_011542218.1:p.Arg530=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110829" }, { "coordinates": [ { "allele": "A", "end": 1501, "referenceAllele": "C", "start": 1500 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "XM_011543917.1:c.1207C>A" ], "proteinEffect": { "hgvs": "XP_011542219.1:p.Arg403=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110830" }, { "coordinates": [ { "allele": "A", "end": 2981, "referenceAllele": "C", "start": 2980 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "XM_011543918.1:c.1444C>A" ], "proteinEffect": { "hgvs": "XP_011542220.1:p.Arg482=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110831" }, { "coordinates": [ { "allele": "A", "end": 2943, "referenceAllele": "C", "start": 2942 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "XM_011543919.1:c.1408C>A" ], "proteinEffect": { "hgvs": "XP_011542221.1:p.Arg470=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110832" }, { "coordinates": [ { "allele": "A", "end": 1377, "referenceAllele": "C", "start": 1376 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "XM_017029567.1:c.1315C>A" ], "proteinEffect": { "hgvs": "XP_016885056.1:p.Arg439=" }, "referenceSequence": "http://reg.genome.network/refseq/RS579085" }, { "@id": "http://reg.genome.network/allele/PA2825571779", "coordinates": [ { "allele": "A", "end": 1156, "referenceAllele": "C", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "NM_001114377.2:c.1084C>A" ], "proteinEffect": { "hgvs": "NP_001107849.1:p.Arg362=" }, "referenceSequence": "http://reg.genome.network/refseq/RS676745" }, { "@id": "http://reg.genome.network/allele/PA2829753799", "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN006106", "geneNCBI_id": 50943, "geneSymbol": "FOXP3", "hgvs": [ "NM_014009.4:c.1189C>A" ], "proteinEffect": { "hgvs": "NP_054728.2:p.Arg397=" }, "referenceSequence": "http://reg.genome.network/refseq/RS697169", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376207.10:c.1189C>A" }, "RefSeq": { "hgvs": "NM_014009.4:c.1189C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365380.4:p.Arg397=" }, "RefSeq": { "hgvs": "NP_054728.2:p.Arg397=" } } } } ], "type": "nucleotide" }