{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2144070", "communityStandardTitle": [ "NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=719679[alleleid]", "alleleId": 719679, "preferredName": "NM_000092.5(COL4A4):c.4779G>A (p.Arg1593=)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/713195", "RCV": [ "RCV000885300", "RCV001139981" ], "variationId": 713195 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-227872764-C-T", "id": "2-227872764-C-T", "variant": "2:227872764 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.227872764C>T?assembly=hg19", "id": "chr2:g.227872764C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.227008048C>T?assembly=hg38", "id": "chr2:g.227008048C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/751561029", "rs": 751561029 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-227872764-C-T?dataset=gnomad_r2_1", "id": "2-227872764-C-T", "variant": "2:227872764 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-227008048-C-T?dataset=gnomad_r3", "id": "2-227008048-C-T", "variant": "2:227008048 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-227008048-C-T?dataset=gnomad_r4", "id": "2-227008048-C-T", "variant": "2:227008048 C / T" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227008048, "referenceAllele": "C", "start": 227008047 } ], "hgvs": [ "NC_000002.12:g.227008048C>T", "CM000664.2:g.227008048C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227872764, "referenceAllele": "C", "start": 227872763 } ], "hgvs": [ "NC_000002.11:g.227872764C>T", "CM000664.1:g.227872764C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 227581008, "referenceAllele": "C", "start": 227581007 } ], "hgvs": [ "NC_000002.10:g.227581008C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 161512, "referenceAllele": "G", "start": 161511 } ], "hgvs": [ "NG_011592.1:g.161512G>A", "LRG_231:g.161512G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001840" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 381, "referenceAllele": "G", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "ENST00000682098.1:c.381G>A" ], "proteinEffect": { "hgvs": "ENSP00000508331.1:p.Arg127=" }, "referenceSequence": "http://reg.genome.network/refseq/RS827095" }, { "coordinates": [ { "allele": "A", "end": 5079, "referenceAllele": "G", "start": 5078 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "ENST00000396625.5:c.4779G>A" ], "proteinEffect": { "hgvs": "ENSP00000379866.3:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS753543", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396625.5:c.4779G>A" }, "RefSeq": { "hgvs": "NM_000092.5:c.4779G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379866.3:p.Arg1593=" }, "RefSeq": { "hgvs": "NP_000083.3:p.Arg1593=" } } } }, { "coordinates": [ { "allele": "A", "end": 4987, "referenceAllele": "G", "start": 4986 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "ENST00000396625.3:c.4779G>A" ], "proteinEffect": { "hgvs": "ENSP00000379866.3:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS277360" }, { "@id": "http://reg.genome.network/allele/PA2825060425", "coordinates": [ { "allele": "A", "end": 5433, "referenceAllele": "G", "start": 5432 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "NM_000092.4:c.4779G>A", "LRG_231t1:c.4779G>A" ], "proteinEffect": { "hgvs": "NP_000083.3:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006156" }, { "coordinates": [ { "allele": "A", "end": 4964, "referenceAllele": "G", "start": 4963 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246281.2:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_005246338.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS057551" }, { "coordinates": [ { "allele": "A", "end": 4534, "referenceAllele": "G", "start": 4533 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246282.2:c.4224G>A" ], "proteinEffect": { "hgvs": "XP_005246339.1:p.Arg1408=" }, "referenceSequence": "http://reg.genome.network/refseq/RS057552" }, { "coordinates": [ { "allele": "A", "end": 4900, "referenceAllele": "G", "start": 4899 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712246.2:c.4590G>A" ], "proteinEffect": { "hgvs": "XP_006712309.1:p.Arg1530=" }, "referenceSequence": "http://reg.genome.network/refseq/RS069541" }, { "coordinates": [ { "allele": "A", "end": 5089, "referenceAllele": "G", "start": 5088 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712249.2:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_006712312.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS069542" }, { "coordinates": [ { "allele": "A", "end": 4526, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4526, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712252.2:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_006712315.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS069544" }, { "coordinates": [ { "allele": "A", "end": 5008, "referenceAllele": "G", "start": 5007 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510557.1:c.4698G>A" ], "proteinEffect": { "hgvs": "XP_011508859.1:p.Arg1566=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077820" }, { "coordinates": [ { "allele": "A", "end": 4981, "referenceAllele": "G", "start": 4980 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510558.1:c.4671G>A" ], "proteinEffect": { "hgvs": "XP_011508860.1:p.Arg1557=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077821" }, { "coordinates": [ { "allele": "A", "end": 5089, "referenceAllele": "G", "start": 5088 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510559.1:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_011508861.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077822" }, { "coordinates": [ { "allele": "A", "end": 5089, "referenceAllele": "G", "start": 5088 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510560.1:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_011508862.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077823" }, { "coordinates": [ { "allele": "A", "end": 5089, "referenceAllele": "G", "start": 5088 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510561.1:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_011508863.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077824" }, { "coordinates": [ { "allele": "A", "end": 5089, "referenceAllele": "G", "start": 5088 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510562.1:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_011508864.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077825" }, { "coordinates": [ { "allele": "A", "end": 4835, "referenceAllele": "G", "start": 4834 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510563.1:c.*112G>A" ], "proteinEffect": { "hgvs": "XP_011508865.1:n.*112G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS077826" }, { "coordinates": [ { "allele": "A", "end": 4718, "referenceAllele": "G", "start": 4717 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510564.1:c.*112G>A" ], "proteinEffect": { "hgvs": "XP_011508866.1:n.*112G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS077827" }, { "coordinates": [ { "allele": "A", "end": 4526, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4526, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510565.1:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_011508867.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS077828" }, { "coordinates": [ { "allele": "A", "end": 4526, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4526, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510566.1:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_011508868.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS077829" }, { "coordinates": [ { "allele": "A", "end": 4526, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4526, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510567.1:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_011508869.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS077830" }, { "coordinates": [ { "allele": "A", "end": 4526, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4526, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510569.1:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_011508871.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS077832" }, { "coordinates": [ { "allele": "A", "end": 4526, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4526, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510570.1:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_011508872.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS077833" }, { "coordinates": [ { "allele": "A", "end": 4526, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4526, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510571.1:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_011508873.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS077834" }, { "coordinates": [ { "allele": "A", "end": 3317, "referenceAllele": "G", "start": 3316 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510572.1:c.3105G>A" ], "proteinEffect": { "hgvs": "XP_011508874.1:p.Arg1035=" }, "referenceSequence": "http://reg.genome.network/refseq/RS077835" }, { "coordinates": [ { "allele": "A", "end": 5089, "referenceAllele": "G", "start": 5088 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922837.1:n.5089G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS119899" }, { "coordinates": [ { "allele": "A", "end": 5089, "referenceAllele": "G", "start": 5088 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922838.1:n.5089G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS119900" }, { "coordinates": [ { "allele": "A", "end": 4526, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4526, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922839.1:n.4526+14000G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS119901" }, { "coordinates": [ { "allele": "A", "end": 4526, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4526, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922840.1:n.4526+14000G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS119902" }, { "coordinates": [ { "allele": "A", "end": 4967, "referenceAllele": "G", "start": 4966 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246281.3:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_005246338.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS532576" }, { "coordinates": [ { "allele": "A", "end": 4550, "referenceAllele": "G", "start": 4549 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_005246282.3:c.4224G>A" ], "proteinEffect": { "hgvs": "XP_005246339.1:p.Arg1408=" }, "referenceSequence": "http://reg.genome.network/refseq/RS532577" }, { "coordinates": [ { "allele": "A", "end": 4916, "referenceAllele": "G", "start": 4915 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_006712246.3:c.4590G>A" ], "proteinEffect": { "hgvs": "XP_006712309.1:p.Arg1530=" }, "referenceSequence": "http://reg.genome.network/refseq/RS538214" }, { "coordinates": [ { "allele": "A", "end": 5024, "referenceAllele": "G", "start": 5023 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510557.2:c.4698G>A" ], "proteinEffect": { "hgvs": "XP_011508859.1:p.Arg1566=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541766" }, { "coordinates": [ { "allele": "A", "end": 4997, "referenceAllele": "G", "start": 4996 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510558.2:c.4671G>A" ], "proteinEffect": { "hgvs": "XP_011508860.1:p.Arg1557=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541767" }, { "coordinates": [ { "allele": "A", "end": 5105, "referenceAllele": "G", "start": 5104 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510559.2:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_011508861.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541768" }, { "coordinates": [ { "allele": "A", "end": 5105, "referenceAllele": "G", "start": 5104 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510560.2:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_011508862.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541769" }, { "coordinates": [ { "allele": "A", "end": 5105, "referenceAllele": "G", "start": 5104 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510561.2:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_011508863.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541770" }, { "coordinates": [ { "allele": "A", "end": 5105, "referenceAllele": "G", "start": 5104 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510562.2:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_011508864.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541771" }, { "coordinates": [ { "allele": "A", "end": 4542, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4542, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510565.2:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_011508867.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS541772" }, { "coordinates": [ { "allele": "A", "end": 4542, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4542, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510566.2:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_011508868.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS541773" }, { "coordinates": [ { "allele": "A", "end": 4542, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4542, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510567.2:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_011508869.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS541774" }, { "coordinates": [ { "allele": "A", "end": 4542, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4542, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510569.2:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_011508871.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS541776" }, { "coordinates": [ { "allele": "A", "end": 4542, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4542, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510570.2:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_011508872.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS541777" }, { "coordinates": [ { "allele": "A", "end": 3333, "referenceAllele": "G", "start": 3332 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_011510572.3:c.3105G>A" ], "proteinEffect": { "hgvs": "XP_011508874.1:p.Arg1035=" }, "referenceSequence": "http://reg.genome.network/refseq/RS541778" }, { "coordinates": [ { "allele": "A", "end": 5105, "referenceAllele": "G", "start": 5104 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003296.1:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_016858785.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS559067" }, { "coordinates": [ { "allele": "A", "end": 4988, "referenceAllele": "G", "start": 4987 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003297.1:c.4662G>A" ], "proteinEffect": { "hgvs": "XP_016858786.1:p.Arg1554=" }, "referenceSequence": "http://reg.genome.network/refseq/RS559068" }, { "coordinates": [ { "allele": "A", "end": 5105, "referenceAllele": "G", "start": 5104 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003298.1:c.4779G>A" ], "proteinEffect": { "hgvs": "XP_016858787.1:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS559069" }, { "coordinates": [ { "allele": "A", "end": 4542, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4542, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XM_017003300.1:c.4216+14000G>A" ], "proteinEffect": { "hgvs": "XP_016858789.1:n.4216+14000G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS559071" }, { "coordinates": [ { "allele": "A", "end": 5105, "referenceAllele": "G", "start": 5104 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738602.1:n.5105G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589091" }, { "coordinates": [ { "allele": "A", "end": 5105, "referenceAllele": "G", "start": 5104 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738603.1:n.5105G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589092" }, { "coordinates": [ { "allele": "A", "end": 4851, "referenceAllele": "G", "start": 4850 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738604.1:n.4851G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589093" }, { "coordinates": [ { "allele": "A", "end": 4542, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4542, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738606.1:n.4542+14000G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589094" }, { "coordinates": [ { "allele": "A", "end": 4542, "endIntronDirection": "+", "endIntronOffset": 14000, "referenceAllele": "G", "start": 4542, "startIntronDirection": "+", "startIntronOffset": 13999 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_001738607.1:n.4542+14000G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589095" }, { "coordinates": [ { "allele": "A", "end": 5105, "referenceAllele": "G", "start": 5104 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "XR_922837.2:n.5105G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS607167" }, { "@id": "http://reg.genome.network/allele/PA2825060425", "coordinates": [ { "allele": "A", "end": 5079, "referenceAllele": "G", "start": 5078 } ], "gene": "http://reg.genome.network/gene/GN002206", "geneNCBI_id": 1286, "geneSymbol": "COL4A4", "hgvs": [ "NM_000092.5:c.4779G>A" ], "proteinEffect": { "hgvs": "NP_000083.3:p.Arg1593=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674699", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000396625.5:c.4779G>A" }, "RefSeq": { "hgvs": "NM_000092.5:c.4779G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379866.3:p.Arg1593=" }, "RefSeq": { "hgvs": "NP_000083.3:p.Arg1593=" } } } } ], "type": "nucleotide" }