{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1764070113", "communityStandardTitle": [ "NM_001308093.3(GATA4):c.931A= (p.Met311=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/387906772", "rs": 387906772 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 11755064, "referenceAllele": "A", "start": 11755063 } ], "hgvs": [ "NC_000008.11:g.11755064A=", "CM000670.2:g.11755064A=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 11612573, "referenceAllele": "A", "start": 11612572 } ], "hgvs": [ "NC_000008.10:g.11612573A=", "CM000670.1:g.11612573A=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 11649982, "referenceAllele": "A", "start": 11649981 } ], "hgvs": [ "NC_000008.9:g.11649982A=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 83146, "referenceAllele": "A", "start": 83145 } ], "hgvs": [ "NG_008177.2:g.83146A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS000922" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1588, "referenceAllele": "A", "start": 1587 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "ENST00000622443.3:c.928A=" ], "proteinEffect": { "hgvs": "ENSP00000482268.2:p.Met310=" }, "referenceSequence": "http://reg.genome.network/refseq/RS826581" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "A", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "ENST00000532059.6:c.931A=" ], "proteinEffect": { "hgvs": "ENSP00000435712.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS759271", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000532059.6:c.931A=" }, "RefSeq": { "hgvs": "NM_001308093.3:c.931A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000435712.1:p.Met311=" }, "RefSeq": { "hgvs": "NP_001295022.1:p.Met311=" } } } }, { "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "A", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "ENST00000335135.8:c.928A=" ], "proteinEffect": { "hgvs": "ENSP00000334458.4:p.Met310=" }, "referenceSequence": "http://reg.genome.network/refseq/RS260060" }, { "coordinates": [ { "allele": "A", "end": 469, "referenceAllele": "A", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "ENST00000526716.5:c.310A=" ], "proteinEffect": { "hgvs": "ENSP00000435347.1:p.Met104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS352531" }, { "coordinates": [ { "allele": "A", "end": 688, "referenceAllele": "A", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "ENST00000528712.5:c.310A=" ], "proteinEffect": { "hgvs": "ENSP00000435043.1:p.Met104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS354209" }, { "coordinates": [ { "allele": "A", "end": 1011, "referenceAllele": "A", "start": 1010 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "ENST00000532059.5:c.931A=" ], "proteinEffect": { "hgvs": "ENSP00000435712.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS357049" }, { "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "ENST00000622443.2:c.925A=" ], "proteinEffect": { "hgvs": "ENSP00000482268.1:p.Met309=" }, "referenceSequence": "http://reg.genome.network/refseq/RS405731" }, { "coordinates": [ { "allele": "A", "end": 1388, "referenceAllele": "A", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "NM_001308093.1:c.931A=" ], "proteinEffect": { "hgvs": "NP_001295022.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS026132" }, { "coordinates": [ { "allele": "A", "end": 728, "referenceAllele": "A", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "NM_001308094.1:c.310A=" ], "proteinEffect": { "hgvs": "NP_001295023.1:p.Met104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS026133" }, { "@id": "http://reg.genome.network/allele/PA3074776208", "coordinates": [ { "allele": "A", "end": 1482, "referenceAllele": "A", "start": 1481 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "NM_002052.3:c.928A=" ], "proteinEffect": { "hgvs": "NP_002043.2:p.Met310=" }, "referenceSequence": "http://reg.genome.network/refseq/RS027377" }, { "@id": "http://reg.genome.network/allele/PA3074776208", "coordinates": [ { "allele": "A", "end": 1539, "referenceAllele": "A", "start": 1538 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "NM_002052.4:c.928A=" ], "proteinEffect": { "hgvs": "NP_002043.2:p.Met310=" }, "referenceSequence": "http://reg.genome.network/refseq/RS027378" }, { "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "A", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "XM_005272385.3:c.931A=" ], "proteinEffect": { "hgvs": "XP_005272442.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS067245" }, { "coordinates": [ { "allele": "A", "end": 1799, "referenceAllele": "A", "start": 1798 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "XM_005272386.1:c.931A=" ], "proteinEffect": { "hgvs": "XP_005272443.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS067246" }, { "coordinates": [ { "allele": "A", "end": 1720, "referenceAllele": "A", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "XM_006716248.1:c.931A=" ], "proteinEffect": { "hgvs": "XP_006716311.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS071568" }, { "coordinates": [ { "allele": "A", "end": 1786, "referenceAllele": "A", "start": 1785 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "XM_011543817.1:c.931A=" ], "proteinEffect": { "hgvs": "XP_011542119.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110730" }, { "coordinates": [ { "allele": "A", "end": 1853, "referenceAllele": "A", "start": 1852 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "XM_011543818.1:c.931A=" ], "proteinEffect": { "hgvs": "XP_011542120.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS110731" }, { "coordinates": [ { "allele": "A", "end": 1611, "referenceAllele": "A", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "XM_005272385.4:c.931A=" ], "proteinEffect": { "hgvs": "XP_005272442.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS537291" }, { "coordinates": [ { "allele": "A", "end": 1789, "referenceAllele": "A", "start": 1788 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "XM_011543817.3:c.931A=" ], "proteinEffect": { "hgvs": "XP_011542119.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS555379" }, { "coordinates": [ { "allele": "A", "end": 1928, "referenceAllele": "A", "start": 1927 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "XM_011543818.2:c.931A=" ], "proteinEffect": { "hgvs": "XP_011542120.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS555380" }, { "coordinates": [ { "allele": "A", "end": 2246, "referenceAllele": "A", "start": 2245 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "XM_017013312.2:c.931A=" ], "proteinEffect": { "hgvs": "XP_016868801.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS566645" }, { "coordinates": [ { "allele": "A", "end": 1491, "referenceAllele": "A", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "NM_001308093.3:c.931A=" ], "proteinEffect": { "hgvs": "NP_001295022.1:p.Met311=" }, "referenceSequence": "http://reg.genome.network/refseq/RS683922", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000532059.6:c.931A=" }, "RefSeq": { "hgvs": "NM_001308093.3:c.931A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000435712.1:p.Met311=" }, "RefSeq": { "hgvs": "NP_001295022.1:p.Met311=" } } } }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "A", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "NM_001308094.2:c.310A=" ], "proteinEffect": { "hgvs": "NP_001295023.1:p.Met104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS683923" }, { "coordinates": [ { "allele": "A", "end": 415, "referenceAllele": "A", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "NM_001374273.1:c.310A=" ], "proteinEffect": { "hgvs": "NP_001361202.1:p.Met104=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693201" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "A", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "NM_001374274.1:c.184A=" ], "proteinEffect": { "hgvs": "NP_001361203.1:p.Met62=" }, "referenceSequence": "http://reg.genome.network/refseq/RS693202" }, { "@id": "http://reg.genome.network/allele/PA3074776208", "coordinates": [ { "allele": "A", "end": 1488, "referenceAllele": "A", "start": 1487 } ], "gene": "http://reg.genome.network/gene/GN004173", "geneNCBI_id": 2626, "geneSymbol": "GATA4", "hgvs": [ "NM_002052.5:c.928A=" ], "proteinEffect": { "hgvs": "NP_002043.2:p.Met310=" }, "referenceSequence": "http://reg.genome.network/refseq/RS695443" } ], "type": "nucleotide" }