{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA345317", "communityStandardTitle": [ "NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=68268[alleleid]", "alleleId": 68268, "preferredName": "NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53600", "RCV": [ "RCV000056375", "RCV000781254", "RCV001831761", "RCV003474557" ], "variationId": 53600 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-117170971-C-T", "id": "7-117170971-C-T", "variant": "7:117170971 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.117170971C>T?assembly=hg19", "id": "chr7:g.117170971C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.117530917C>T?assembly=hg38", "id": "chr7:g.117530917C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/397508461", "rs": 397508461 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-117170971-C-T?dataset=gnomad_r2_1", "id": "7-117170971-C-T", "variant": "7:117170971 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-117530917-C-T?dataset=gnomad_r3", "id": "7-117530917-C-T", "variant": "7:117530917 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-117530917-C-T?dataset=gnomad_r4", "id": "7-117530917-C-T", "variant": "7:117530917 C / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 117530917, "referenceAllele": "C", "start": 117530916 } ], "hgvs": [ "NC_000007.14:g.117530917C>T", "CM000669.2:g.117530917C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 117170971, "referenceAllele": "C", "start": 117170970 } ], "hgvs": [ "NC_000007.13:g.117170971C>T", "CM000669.1:g.117170971C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 116958207, "referenceAllele": "C", "start": 116958206 } ], "hgvs": [ "NC_000007.12:g.116958207C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 70134, "referenceAllele": "C", "start": 70133 } ], "hgvs": [ "NG_016465.4:g.70134C>T", "LRG_663:g.70134C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003205" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647720.2:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000497673.2:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS906457" }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647978.2:c.*189C>T" ], "proteinEffect": { "hgvs": "ENSP00000497658.1:n.*189C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS906459" }, { "coordinates": [ { "allele": "T", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.2:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS906473" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000685018.2:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000510194.2:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS906564" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000687278.2:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000509593.2:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS906570" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699585.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000514456.1:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910468" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699596.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000514465.1:p.Gln98Ter", "hgvsWellDefined": "ENSP00000514465.1:p.Gln98_Phe536delinsProLeuLeuLeuGlyArgIleIleAlaSerTyrAspProAspAsnLysGluGluArgSerIleAlaIleTyrLeuGlyIleGlyLeuCysLeuLeuPheIleValArgThrLeuLeuLeuHisProAlaIlePheGlyLeuHisHisIleGlyMetGlnMetArgIleAlaMetPheSerLeuIleTyrLysLysThrLeuLysLeuSerSerArgValLeuAspLysIleSerIleGlyGlnLeuValSerLeuLeuSerAsnAsnLeuAsnLysPheAspGluGlyLeuAlaLeuAlaHisPheValTrpIleAlaProLeuGlnValAlaLeuLeuMetGlyLeuIleTrpGluLeuLeuGlnAlaSerAlaPheCysGlyLeuGlyPheLeuIleValLeuAlaLeuPheGlnAlaGlyLeuGlyArgMetMetMetLysTyrArgAspGlnArgAlaGlyLysIleSerGluArgLeuValIleThrSerGluMetIleGluAsnIleGlnSerValLysAlaTyrCysTrpGluGluAlaMetGluLysMetIleGluAsnLeuArgGlnThrGluLeuLysLeuThrArgLysAlaAlaTyrValArgTyrPheAsnSerSerAlaPhePhePheSerGlyPhePheValValPheLeuSerValLeuProTyrAlaLeuIleLysGlyIleIleLeuArgLysIlePheThrThrIleSerPheCysIleValLeuArgMetAlaValThrArgGlnPheProTrpAlaValGlnThrTrpTyrAspSerLeuGlyAlaIleAsnLysIleGlnAspPheLeuGlnLysGlnGluTyrLysThrLeuGluTyrAsnLeuThrThrThrGluValValMetGluAsnValThrAlaPheTrpGluGluGlyPheGlyGluLeuPheGluLysAlaLysGlnAsnAsnAsnAsnArgLysThrSerAsnGlyAspAspSerLeuPhePheSerAsnPheSerLeuLeuGlyThrProValLeuLysAspIleAsnPheLysIleGluArgGlyGlnLeuLeuAlaValAlaGlySerThrGlyAlaGlyLysThrSerLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluValArgAsnTyrValLysThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910476" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699597.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000514466.1:p.Gln98Ter", "hgvsWellDefined": "ENSP00000514466.1:p.Gln98_Gly478delinsProLeuLeuLeuGlyArgIleIleAlaSerTyrAspProAspAsnLysGluGluArgSerIleAlaIleTyrLeuGlyIleGlyLeuCysLeuLeuPheIleValArgThrLeuLeuLeuHisProAlaIlePheGlyLeuHisHisIleGlyMetGlnMetArgIleAlaMetPheSerLeuIleTyrLysLysThrLeuLysLeuSerSerArgValLeuAspLysIleSerIleGlyGlnLeuValSerLeuLeuSerAsnAsnLeuAsnLysPheAspGluGlyLeuAlaLeuAlaHisPheValTrpIleAlaProLeuGlnValAlaLeuLeuMetGlyLeuIleTrpGluLeuLeuGlnAlaSerAlaPheCysGlyLeuGlyPheLeuIleValLeuAlaLeuPheGlnAlaGlyLeuGlyArgMetMetMetLysTyrArgAspGlnArgAlaGlyLysIleSerGluArgLeuValIleThrSerGluMetIleGluAsnIleGlnSerValLysAlaTyrCysTrpGluGluAlaMetGluLysMetIleGluAsnLeuArgGlnThrGluLeuLysLeuThrArgLysAlaAlaTyrValArgTyrPheAsnSerSerAlaPhePhePheSerGlyPhePheValValPheLeuSerValLeuProTyrAlaLeuIleLysGlyIleIleLeuArgLysIlePheThrThrIleSerPheCysIleValLeuArgMetAlaValThrArgGlnPheProTrpAlaValGlnThrTrpTyrAspSerLeuGlyAlaIleAsnLysIleGlnAspPheLeuGlnLysGlnGluTyrLysThrLeuGluTyrAsnLeuThrThrThrGluValValMetGluAsnValThrAlaPheTrpGluGluGlyPheGlyGluLeuPheGluLysAlaLysGlnAsnAsnAsnAsnArgLysThrSerAsnGlyAspAspSerLeuPhePheSerAsnPheSerLeuLeuGlyThrProValLeuLysAspIleAsnPheLysIleGluArgGlyGlnLeuLeuAlaValAlaGlySerThrGlyAlaAspPheThrSerAsnGlyAspTyrGlyArgThrGlyAlaPheArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910477" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699598.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000514467.1:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910478" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699599.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000514468.1:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910479" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699600.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000514469.1:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910480" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699601.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000514470.1:p.Gln98Ter", "hgvsWellDefined": "ENSP00000514470.1:p.Gln98_Cys564delinsProLeuLeuLeuGlyArgIleIleAlaSerTyrAspProAspAsnLysGluGluArgSerIleAlaIleTyrLeuGlyIleGlyLeuCysLeuLeuPheIleValArgThrLeuLeuLeuHisProAlaIlePheGlyLeuHisHisIleGlyMetGlnMetArgIleAlaMetPheSerLeuIleTyrLysLysThrLeuLysLeuSerSerArgValLeuAspLysIleSerIleGlyGlnLeuValSerLeuLeuSerAsnAsnLeuAsnLysPheAspGluGlyLeuAlaLeuAlaHisPheValTrpIleAlaProLeuGlnValAlaLeuLeuMetGlyLeuIleTrpGluLeuLeuGlnAlaSerAlaPheCysGlyLeuGlyPheLeuIleValLeuAlaLeuPheGlnAlaGlyLeuGlyArgMetMetMetLysTyrArgAspGlnArgAlaGlyLysIleSerGluArgLeuValIleThrSerGluMetIleGluAsnIleGlnSerValLysAlaTyrCysTrpGluGluAlaMetGluLysMetIleGluAsnLeuArgGlnThrGluLeuLysLeuThrArgLysAlaAlaTyrValArgTyrPheAsnSerSerAlaPhePhePheSerGlyPhePheValValPheLeuSerValLeuProTyrAlaLeuIleLysGlyIleIleLeuArgLysIlePheThrThrIleSerPheCysIleValLeuArgMetAlaValThrArgGlnPheProTrpAlaValGlnThrTrpTyrAspSerLeuGlyAlaIleAsnLysIleGlnAspPheLeuGlnLysGlnGluTyrLysThrLeuGluTyrAsnLeuThrThrThrGluValValMetGluAsnValThrAlaPheTrpGluGluGlyPheGlyGluLeuPheGluLysAlaLysGlnAsnAsnAsnAsnArgLysThrSerAsnGlyAspAspSerLeuPhePheSerAsnPheSerLeuLeuGlyThrProValLeuLysAspIleAsnPheLysIleGluArgGlyGlnLeuLeuAlaValAlaGlySerThrGlyAlaGlyLysThrSerLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaSerIleGlnArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910481" }, { "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699602.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000514471.1:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910482" }, { "coordinates": [ { "allele": "T", "end": 374, "referenceAllele": "C", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699604.1:c.*116C>T" ], "proteinEffect": { "hgvs": "ENSP00000514472.1:n.*116C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS910484" }, { "coordinates": [ { "allele": "T", "end": 471, "referenceAllele": "C", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000699605.1:c.49C>T" ], "proteinEffect": { "hgvs": "ENSP00000514473.1:p.Gln17Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910485" }, { "coordinates": [ { "allele": "T", "end": 629, "referenceAllele": "C", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000446805.2:c.49C>T" ], "proteinEffect": { "hgvs": "ENSP00000417012.1:p.Gln17Ter", "hgvsWellDefined": "ENSP00000417012.1:p.Gln17_Ser37del" }, "referenceSequence": "http://reg.genome.network/refseq/RS824976" }, { "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "C", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.11:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS739921", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.292C>T" }, "RefSeq": { "hgvs": "NM_000492.4:c.292C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Gln98Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Gln98Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 450, "referenceAllele": "C", "start": 449 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000647978.1:c.*189C>T" ], "proteinEffect": { "hgvs": "ENSP00000497658.1:n.*189C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769718" }, { "coordinates": [ { "allele": "T", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000648260.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000497957.1:p.Gln98Ter", "hgvsWellDefined": "ENSP00000497957.1:p.Gln98_Cys842delinsProLeuLeuLeuGlyArgIleIleAlaSerTyrAspProAspAsnLysGluGluArgSerIleAlaIleTyrLeuGlyIleGlyLeuCysLeuLeuPheIleValArgThrLeuLeuLeuHisProAlaIlePheGlyLeuHisHisIleGlyMetGlnMetArgIleAlaMetPheSerLeuIleTyrLysLysThrLeuLysLeuSerSerArgValLeuAspLysIleSerIleGlyGlnLeuValSerLeuLeuSerAsnAsnLeuAsnLysPheAspGluGlyLeuAlaLeuAlaHisPheValTrpIleAlaProLeuGlnValAlaLeuLeuMetGlyLeuIleTrpGluLeuLeuGlnAlaSerAlaPheCysGlyLeuGlyPheLeuIleValLeuAlaLeuPheGlnAlaGlyLeuGlyArgMetMetMetLysTyrArgAspGlnArgAlaGlyLysIleSerGluArgLeuValIleThrSerGluMetIleGluAsnIleGlnSerValLysAlaTyrCysTrpGluGluAlaMetGluLysMetIleGluAsnLeuArgGlnThrGluLeuLysLeuThrArgLysAlaAlaTyrValArgTyrPheAsnSerSerAlaPhePhePheSerGlyPhePheValValPheLeuSerValLeuProTyrAlaLeuIleLysGlyIleIleLeuArgLysIlePheThrThrIleSerPheCysIleValLeuArgMetAlaValThrArgGlnPheProTrpAlaValGlnThrTrpTyrAspSerLeuGlyAlaIleAsnLysIleGlnAspPheLeuGlnLysGlnGluTyrLysThrLeuGluTyrAsnLeuThrThrThrGluValValMetGluAsnValThrAlaPheTrpGluGluThrSerLeuLeuMetValIleMetGlyGluLeuGluProSerGluGlyLysIleLysHisSerGlyArgIleSerPheCysSerGlnPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValArgPheGluHisCysLeuLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769868" }, { "coordinates": [ { "allele": "T", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649406.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000497965.1:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS770520" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000649781.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000497203.1:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS770746" }, { "coordinates": [ { "allele": "T", "end": 754, "referenceAllele": "C", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000673785.1:c.49C>T" ], "proteinEffect": { "hgvs": "ENSP00000501235.1:p.Gln17Ter", "hgvsWellDefined": "ENSP00000501235.1:p.Gln17Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS773869" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000003084.10:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000003084.6:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247433" }, { "coordinates": [ { "allele": "T", "end": 292, "referenceAllele": "C", "start": 291 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000426809.5:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000389119.1:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289393" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "ENST00000446805.1:c.49C>T" ], "proteinEffect": { "hgvs": "ENSP00000417012.1:p.Gln17Ter", "hgvsWellDefined": "ENSP00000417012.1:p.Gln17_Ser37del" }, "referenceSequence": "http://reg.genome.network/refseq/RS298910" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.3:c.292C>T", "LRG_663t1:c.292C>T" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006546" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515751.1:c.382C>T" ], "proteinEffect": { "hgvs": "XP_011514053.1:p.Gln128Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS082962" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515752.1:c.382C>T" ], "proteinEffect": { "hgvs": "XP_011514054.1:p.Gln128Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS082963" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "C", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515753.1:c.49C>T" ], "proteinEffect": { "hgvs": "XP_011514055.1:p.Gln17Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS082964" }, { "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "C", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "XM_011515754.1:c.49C>T" ], "proteinEffect": { "hgvs": "XP_011514056.1:p.Gln17Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS082965" }, { "coordinates": [ { "allele": "T", "end": 362, "referenceAllele": "C", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN001884", "geneNCBI_id": 1080, "geneSymbol": "CFTR", "hgvs": [ "NM_000492.4:c.292C>T" ], "proteinEffect": { "hgvs": "NP_000483.3:p.Gln98Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674867", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000003084.11:c.292C>T" }, "RefSeq": { "hgvs": "NM_000492.4:c.292C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000003084.6:p.Gln98Ter" }, "RefSeq": { "hgvs": "NP_000483.3:p.Gln98Ter" } } } } ], "type": "nucleotide" }