{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA354199", "communityStandardTitle": [ "NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=225839[alleleid]", "alleleId": 225839, "preferredName": "NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224109", "RCV": [ "RCV000209930", "RCV000355238", "RCV000712126", "RCV002315641", "RCV003927889", "RCV001080368", "RCV002270025" ], "variationId": 224109 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/9-138670668-G-A", "id": "9-138670668-G-A", "variant": "9:138670668 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.138670668G>A?assembly=hg19", "id": "chr9:g.138670668G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.135778822G>A?assembly=hg38", "id": "chr9:g.135778822G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/151272083", "rs": 151272083 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-138670668-G-A?dataset=gnomad_r2_1", "id": "9-138670668-G-A", "variant": "9:138670668 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-135778822-G-A?dataset=gnomad_r3", "id": "9-135778822-G-A", "variant": "9:135778822 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-135778822-G-A?dataset=gnomad_r4", "id": "9-135778822-G-A", "variant": "9:135778822 G / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 135778822, "referenceAllele": "G", "start": 135778821 } ], "hgvs": [ "NC_000009.12:g.135778822G>A", "CM000671.2:g.135778822G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 138670668, "referenceAllele": "G", "start": 138670667 } ], "hgvs": [ "NC_000009.11:g.138670668G>A", "CM000671.1:g.138670668G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 137810489, "referenceAllele": "G", "start": 137810488 } ], "hgvs": [ "NC_000009.10:g.137810489G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 81638, "referenceAllele": "G", "start": 81637 } ], "hgvs": [ "NG_033070.1:g.81638G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005402" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2803, "referenceAllele": "G", "start": 2802 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000371757.7:c.2729G>A" ], "proteinEffect": { "hgvs": "ENSP00000360822.2:p.Arg910Gln", "hgvsWellDefined": "ENSP00000360822.2:p.Arg910Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS750860", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371757.7:c.2729G>A" }, "RefSeq": { "hgvs": "NM_020822.3:c.2729G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360822.2:p.Arg910Gln" }, "RefSeq": { "hgvs": "NP_065873.2:p.Arg910Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 2837, "referenceAllele": "G", "start": 2836 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000674572.1:c.2570G>A" ], "proteinEffect": { "hgvs": "ENSP00000501742.1:p.Arg857Gln", "hgvsWellDefined": "ENSP00000501742.1:p.Arg857Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS774520" }, { "coordinates": [ { "allele": "A", "end": 2579, "referenceAllele": "G", "start": 2578 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675090.1:c.2477G>A" ], "proteinEffect": { "hgvs": "ENSP00000501833.1:p.Arg826Gln", "hgvsWellDefined": "ENSP00000501833.1:p.Arg826Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS774959" }, { "coordinates": [ { "allele": "A", "end": 1263, "referenceAllele": "G", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675102.1:n.1263G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774970" }, { "coordinates": [ { "allele": "A", "end": 2567, "referenceAllele": "G", "start": 2566 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000675399.1:c.2477G>A" ], "proteinEffect": { "hgvs": "ENSP00000501932.1:p.Arg826Gln", "hgvsWellDefined": "ENSP00000501932.1:p.Arg826Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS775224" }, { "coordinates": [ { "allele": "A", "end": 2570, "referenceAllele": "G", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000676421.1:c.2486G>A" ], "proteinEffect": { "hgvs": "ENSP00000502322.1:p.Arg829Gln", "hgvsWellDefined": "ENSP00000502322.1:p.Arg829Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS776104" }, { "coordinates": [ { "allele": "A", "end": 2746, "referenceAllele": "G", "start": 2745 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000263604.5:c.2630G>A" ], "proteinEffect": { "hgvs": "ENSP00000263604.4:p.Arg877Gln", "hgvsWellDefined": "ENSP00000263604.4:p.Arg877Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS251298" }, { "coordinates": [ { "allele": "A", "end": 2796, "referenceAllele": "G", "start": 2795 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000371757.6:c.2729G>A" ], "proteinEffect": { "hgvs": "ENSP00000360822.2:p.Arg910Gln", "hgvsWellDefined": "ENSP00000360822.2:p.Arg910Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS268741" }, { "coordinates": [ { "allele": "A", "end": 2754, "referenceAllele": "G", "start": 2753 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000460750.5:c.*2339G>A" ], "proteinEffect": { "hgvs": "ENSP00000418777.1:n.*2339G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS305420" }, { "coordinates": [ { "allele": "A", "end": 2718, "referenceAllele": "G", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000486577.6:c.2612G>A" ], "proteinEffect": { "hgvs": "ENSP00000417578.3:p.Arg871Gln", "hgvsWellDefined": "ENSP00000417578.3:p.Arg871Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS325351" }, { "coordinates": [ { "allele": "A", "end": 2803, "referenceAllele": "G", "start": 2802 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000487664.5:c.2729G>A" ], "proteinEffect": { "hgvs": "ENSP00000417851.2:p.Arg910Gln", "hgvsWellDefined": "ENSP00000417851.2:p.Arg910Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS326178" }, { "coordinates": [ { "allele": "A", "end": 2675, "referenceAllele": "G", "start": 2674 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000488444.6:c.2672G>A" ], "proteinEffect": { "hgvs": "ENSP00000419007.3:p.Arg891Gln", "hgvsWellDefined": "ENSP00000419007.3:p.Arg891Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS326748" }, { "coordinates": [ { "allele": "A", "end": 2666, "referenceAllele": "G", "start": 2665 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000490355.6:c.2666G>A" ], "proteinEffect": { "hgvs": "ENSP00000418003.3:p.Arg889Gln", "hgvsWellDefined": "ENSP00000418003.3:p.Arg889Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS328197" }, { "coordinates": [ { "allele": "A", "end": 2548, "referenceAllele": "G", "start": 2547 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000490363.3:n.2548G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328204" }, { "coordinates": [ { "allele": "A", "end": 2690, "referenceAllele": "G", "start": 2689 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000491806.6:c.2672G>A" ], "proteinEffect": { "hgvs": "ENSP00000419086.3:p.Arg891Gln", "hgvsWellDefined": "ENSP00000419086.3:p.Arg891Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS329331" }, { "coordinates": [ { "allele": "A", "end": 2668, "referenceAllele": "G", "start": 2667 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000628528.2:c.2594G>A" ], "proteinEffect": { "hgvs": "ENSP00000486374.1:p.Arg865Gln", "hgvsWellDefined": "ENSP00000486374.1:p.Arg865Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS407060" }, { "coordinates": [ { "allele": "A", "end": 2564, "referenceAllele": "G", "start": 2563 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000630792.2:c.2564G>A" ], "proteinEffect": { "hgvs": "ENSP00000486486.1:p.Arg855Gln", "hgvsWellDefined": "ENSP00000486486.1:p.Arg855Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS407420" }, { "coordinates": [ { "allele": "A", "end": 2680, "referenceAllele": "G", "start": 2679 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000631073.2:c.2672G>A" ], "proteinEffect": { "hgvs": "ENSP00000486130.1:p.Arg891Gln", "hgvsWellDefined": "ENSP00000486130.1:p.Arg891Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS407470" }, { "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "G", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "ENST00000631193.1:c.595G>A" ], "proteinEffect": { "hgvs": "ENSP00000486830.1:n.595G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407488" }, { "@id": "http://reg.genome.network/allele/PA2826548384", "coordinates": [ { "allele": "A", "end": 2668, "referenceAllele": "G", "start": 2667 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.1:c.2594G>A" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.Arg865Gln", "hgvsWellDefined": "NP_001258932.1:p.Arg865Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS020772" }, { "@id": "http://reg.genome.network/allele/PA354200", "coordinates": [ { "allele": "A", "end": 2803, "referenceAllele": "G", "start": 2802 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_020822.2:c.2729G>A" ], "proteinEffect": { "hgvs": "NP_065873.2:p.Arg910Gln", "hgvsWellDefined": "NP_065873.2:p.Arg910Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS036617" }, { "coordinates": [ { "allele": "A", "end": 3742, "referenceAllele": "G", "start": 3741 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518877.1:c.2864G>A" ], "proteinEffect": { "hgvs": "XP_011517179.1:p.Arg955Gln", "hgvsWellDefined": "XP_011517179.1:p.Arg955Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086051" }, { "coordinates": [ { "allele": "A", "end": 3751, "referenceAllele": "G", "start": 3750 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518878.1:c.2873G>A" ], "proteinEffect": { "hgvs": "XP_011517180.1:p.Arg958Gln", "hgvsWellDefined": "XP_011517180.1:p.Arg958Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086052" }, { "coordinates": [ { "allele": "A", "end": 3742, "referenceAllele": "G", "start": 3741 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518879.1:c.2864G>A" ], "proteinEffect": { "hgvs": "XP_011517181.1:p.Arg955Gln", "hgvsWellDefined": "XP_011517181.1:p.Arg955Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086053" }, { "coordinates": [ { "allele": "A", "end": 2630, "referenceAllele": "G", "start": 2629 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518880.1:c.2630G>A" ], "proteinEffect": { "hgvs": "XP_011517182.1:p.Arg877Gln", "hgvsWellDefined": "XP_011517182.1:p.Arg877Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086054" }, { "coordinates": [ { "allele": "A", "end": 2362, "referenceAllele": "G", "start": 2361 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518881.1:c.2219G>A" ], "proteinEffect": { "hgvs": "XP_011517183.1:p.Arg740Gln", "hgvsWellDefined": "XP_011517183.1:p.Arg740Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS086055" }, { "coordinates": [ { "allele": "A", "end": 2878, "referenceAllele": "G", "start": 2877 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518877.3:c.2864G>A" ], "proteinEffect": { "hgvs": "XP_011517179.1:p.Arg955Gln", "hgvsWellDefined": "XP_011517179.1:p.Arg955Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS545105" }, { "coordinates": [ { "allele": "A", "end": 2887, "referenceAllele": "G", "start": 2886 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518878.3:c.2873G>A" ], "proteinEffect": { "hgvs": "XP_011517180.1:p.Arg958Gln", "hgvsWellDefined": "XP_011517180.1:p.Arg958Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS545106" }, { "coordinates": [ { "allele": "A", "end": 2878, "referenceAllele": "G", "start": 2877 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518879.3:c.2864G>A" ], "proteinEffect": { "hgvs": "XP_011517181.1:p.Arg955Gln", "hgvsWellDefined": "XP_011517181.1:p.Arg955Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS545107" }, { "coordinates": [ { "allele": "A", "end": 3691, "referenceAllele": "G", "start": 3690 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_011518881.3:c.2219G>A" ], "proteinEffect": { "hgvs": "XP_011517183.1:p.Arg740Gln", "hgvsWellDefined": "XP_011517183.1:p.Arg740Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS545108" }, { "coordinates": [ { "allele": "A", "end": 2678, "referenceAllele": "G", "start": 2677 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014931.1:c.2663G>A" ], "proteinEffect": { "hgvs": "XP_016870420.1:p.Arg888Gln", "hgvsWellDefined": "XP_016870420.1:p.Arg888Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS567773" }, { "coordinates": [ { "allele": "A", "end": 2570, "referenceAllele": "G", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014932.1:c.2486G>A" ], "proteinEffect": { "hgvs": "XP_016870421.1:p.Arg829Gln", "hgvsWellDefined": "XP_016870421.1:p.Arg829Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS567774" }, { "coordinates": [ { "allele": "A", "end": 2397, "referenceAllele": "G", "start": 2396 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_017014933.1:c.2219G>A" ], "proteinEffect": { "hgvs": "XP_016870422.1:p.Arg740Gln", "hgvsWellDefined": "XP_016870422.1:p.Arg740Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS567775" }, { "coordinates": [ { "allele": "A", "end": 2750, "referenceAllele": "G", "start": 2749 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_024447617.1:c.2219G>A" ], "proteinEffect": { "hgvs": "XP_024303385.1:p.Arg740Gln", "hgvsWellDefined": "XP_024303385.1:p.Arg740Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS581198" }, { "coordinates": [ { "allele": "A", "end": 2503, "referenceAllele": "G", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "XM_024447618.1:c.2219G>A" ], "proteinEffect": { "hgvs": "XP_024303386.1:p.Arg740Gln", "hgvsWellDefined": "XP_024303386.1:p.Arg740Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS581199" }, { "@id": "http://reg.genome.network/allele/PA354200", "coordinates": [ { "allele": "A", "end": 2803, "referenceAllele": "G", "start": 2802 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_020822.3:c.2729G>A" ], "proteinEffect": { "hgvs": "NP_065873.2:p.Arg910Gln", "hgvsWellDefined": "NP_065873.2:p.Arg910Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS670113", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371757.7:c.2729G>A" }, "RefSeq": { "hgvs": "NM_020822.3:c.2729G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360822.2:p.Arg910Gln" }, "RefSeq": { "hgvs": "NP_065873.2:p.Arg910Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2826548384", "coordinates": [ { "allele": "A", "end": 2668, "referenceAllele": "G", "start": 2667 } ], "gene": "http://reg.genome.network/gene/GN018865", "geneNCBI_id": 57582, "geneSymbol": "KCNT1", "hgvs": [ "NM_001272003.2:c.2594G>A" ], "proteinEffect": { "hgvs": "NP_001258932.1:p.Arg865Gln", "hgvsWellDefined": "NP_001258932.1:p.Arg865Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS681247" } ], "type": "nucleotide" }