{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA303174", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187797[alleleid]", "alleleId": 187797, "preferredName": "NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/189874", "RCV": [ "RCV000180827" ], "variationId": 189874 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166894504G>T?assembly=hg19", "id": "chr2:g.166894504G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166037994G>T?assembly=hg38", "id": "chr2:g.166037994G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/794726721", "rs": 794726721 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166037994, "referenceAllele": "G", "start": 166037993 } ], "hgvs": [ "NC_000002.12:g.166037994G>T", "CM000664.2:g.166037994G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166894504, "referenceAllele": "G", "start": 166894503 } ], "hgvs": [ "NC_000002.11:g.166894504G>T", "CM000664.1:g.166894504G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "T", "end": 166602750, "referenceAllele": "G", "start": 166602749 } ], "hgvs": [ "NC_000002.10:g.166602750G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 40646, "referenceAllele": "C", "start": 40645 } ], "hgvs": [ "NG_011906.1:g.40646C>A", "LRG_8:g.40646C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2871, "referenceAllele": "C", "start": 2870 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.*764C>A" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:n.*764C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "A", "end": 3119, "referenceAllele": "C", "start": 3118 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.2728C>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Gln910Lys", "hgvsWellDefined": "ENSP00000303540.4:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "A", "end": 2912, "referenceAllele": "C", "start": 2911 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.2695C>A" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Gln899Lys", "hgvsWellDefined": "ENSP00000490799.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "A", "end": 2997, "referenceAllele": "C", "start": 2996 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.2695C>A" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Gln899Lys", "hgvsWellDefined": "ENSP00000490692.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "A", "end": 3121, "referenceAllele": "C", "start": 3120 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.*221C>A" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:n.*221C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "A", "end": 3388, "referenceAllele": "C", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636759.1:c.*2518C>A" ], "proteinEffect": { "hgvs": "ENSP00000490895.1:n.*2518C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763360" }, { "coordinates": [ { "allele": "A", "end": 2980, "referenceAllele": "C", "start": 2979 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637968.1:n.2980C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS764246" }, { "coordinates": [ { "allele": "A", "end": 3175, "referenceAllele": "C", "start": 3174 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.2695C>A" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Gln899Lys", "hgvsWellDefined": "ENSP00000490780.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "A", "end": 2744, "referenceAllele": "C", "start": 2743 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.2695C>A" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Gln899Lys", "hgvsWellDefined": "ENSP00000491573.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "A", "end": 2968, "referenceAllele": "C", "start": 2967 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.2692C>A" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Gln898Lys", "hgvsWellDefined": "ENSP00000492917.1:p.Gln898Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "A", "end": 2882, "referenceAllele": "C", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.2728C>A" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Gln910Lys", "hgvsWellDefined": "ENSP00000492945.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "A", "end": 2997, "referenceAllele": "C", "start": 2996 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*2282C>A" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*2282C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "A", "end": 2947, "referenceAllele": "C", "start": 2946 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.*671C>A" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:n.*671C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "A", "end": 5201, "referenceAllele": "C", "start": 5200 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.5201C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "A", "end": 3206, "referenceAllele": "C", "start": 3205 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.2728C>A" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Gln910Lys", "hgvsWellDefined": "ENSP00000501589.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.2728C>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.2728C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Gln910Lys" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Gln910Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 3146, "referenceAllele": "C", "start": 3145 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.2728C>A" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Gln910Lys", "hgvsWellDefined": "ENSP00000303540.4:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "A", "end": 2713, "referenceAllele": "C", "start": 2712 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.2695C>A" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Gln899Lys", "hgvsWellDefined": "ENSP00000364554.3:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "A", "end": 2644, "referenceAllele": "C", "start": 2643 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.2644C>A" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Gln882Lys", "hgvsWellDefined": "ENSP00000386312.1:p.Gln882Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "A", "end": 2804, "referenceAllele": "C", "start": 2803 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.2728C>A" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Gln910Lys", "hgvsWellDefined": "ENSP00000407030.2:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "@id": "http://reg.genome.network/allele/PA303177", "coordinates": [ { "allele": "A", "end": 2746, "referenceAllele": "C", "start": 2745 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.2728C>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Gln910Lys", "hgvsWellDefined": "NP_001159435.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826012555", "coordinates": [ { "allele": "A", "end": 2662, "referenceAllele": "C", "start": 2661 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.2644C>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Gln882Lys", "hgvsWellDefined": "NP_001159436.1:p.Gln882Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826259160", "coordinates": [ { "allele": "A", "end": 2955, "referenceAllele": "C", "start": 2954 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.2728C>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Gln910Lys", "hgvsWellDefined": "NP_001189364.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA303176", "coordinates": [ { "allele": "A", "end": 2713, "referenceAllele": "C", "start": 2712 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.2695C>A", "LRG_8t1:c.2695C>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Gln899Lys", "hgvsWellDefined": "NP_008851.3:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "A", "end": 2912, "referenceAllele": "C", "start": 2911 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.2728C>A" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Gln910Lys", "hgvsWellDefined": "XP_011509900.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "A", "end": 3127, "referenceAllele": "C", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.2728C>A" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Gln910Lys", "hgvsWellDefined": "XP_011509901.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "A", "end": 3003, "referenceAllele": "C", "start": 3002 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.2728C>A" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Gln910Lys", "hgvsWellDefined": "XP_011509902.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "A", "end": 3122, "referenceAllele": "C", "start": 3121 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.2728C>A" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Gln910Lys", "hgvsWellDefined": "XP_011509903.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "A", "end": 3035, "referenceAllele": "C", "start": 3034 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.2728C>A" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Gln910Lys", "hgvsWellDefined": "XP_011509904.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "A", "end": 2909, "referenceAllele": "C", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.2725C>A" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Gln909Lys", "hgvsWellDefined": "XP_011509905.1:p.Gln909Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "A", "end": 2879, "referenceAllele": "C", "start": 2878 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.2695C>A" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Gln899Lys", "hgvsWellDefined": "XP_011509906.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "A", "end": 2876, "referenceAllele": "C", "start": 2875 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.2692C>A" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Gln898Lys", "hgvsWellDefined": "XP_011509907.1:p.Gln898Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "A", "end": 2828, "referenceAllele": "C", "start": 2827 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.2644C>A" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Gln882Lys", "hgvsWellDefined": "XP_011509908.1:p.Gln882Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "A", "end": 2912, "referenceAllele": "C", "start": 2911 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.2728C>A" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Gln910Lys", "hgvsWellDefined": "XP_011509909.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "A", "end": 2912, "referenceAllele": "C", "start": 2911 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.2912C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA303177", "coordinates": [ { "allele": "A", "end": 3225, "referenceAllele": "C", "start": 3224 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.2728C>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Gln910Lys", "hgvsWellDefined": "NP_001159435.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826012555", "coordinates": [ { "allele": "A", "end": 3054, "referenceAllele": "C", "start": 3053 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.2644C>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Gln882Lys", "hgvsWellDefined": "NP_001159436.1:p.Gln882Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826259160", "coordinates": [ { "allele": "A", "end": 3039, "referenceAllele": "C", "start": 3038 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.2728C>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Gln910Lys", "hgvsWellDefined": "NP_001189364.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827751790", "coordinates": [ { "allele": "A", "end": 3046, "referenceAllele": "C", "start": 3045 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.2728C>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Gln910Lys", "hgvsWellDefined": "NP_001340877.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827758404", "coordinates": [ { "allele": "A", "end": 2914, "referenceAllele": "C", "start": 2913 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.2695C>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Gln899Lys", "hgvsWellDefined": "NP_001340878.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827765026", "coordinates": [ { "allele": "A", "end": 3006, "referenceAllele": "C", "start": 3005 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.2695C>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Gln899Lys", "hgvsWellDefined": "NP_001340879.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827770525", "coordinates": [ { "allele": "A", "end": 3013, "referenceAllele": "C", "start": 3012 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.2695C>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Gln899Lys", "hgvsWellDefined": "NP_001340880.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827773514", "coordinates": [ { "allele": "A", "end": 3105, "referenceAllele": "C", "start": 3104 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.2695C>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Gln899Lys", "hgvsWellDefined": "NP_001340881.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827776502", "coordinates": [ { "allele": "A", "end": 3102, "referenceAllele": "C", "start": 3101 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.2692C>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Gln898Lys", "hgvsWellDefined": "NP_001340883.1:p.Gln898Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827779488", "coordinates": [ { "allele": "A", "end": 3010, "referenceAllele": "C", "start": 3009 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.2692C>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Gln898Lys", "hgvsWellDefined": "NP_001340884.1:p.Gln898Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827782461", "coordinates": [ { "allele": "A", "end": 2962, "referenceAllele": "C", "start": 2961 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.2644C>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Gln882Lys", "hgvsWellDefined": "NP_001340886.1:p.Gln882Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827785433", "coordinates": [ { "allele": "A", "end": 2955, "referenceAllele": "C", "start": 2954 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.2644C>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Gln882Lys", "hgvsWellDefined": "NP_001340887.1:p.Gln882Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827788393", "coordinates": [ { "allele": "A", "end": 3051, "referenceAllele": "C", "start": 3050 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.2641C>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Gln881Lys", "hgvsWellDefined": "NP_001340889.1:p.Gln881Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "@id": "http://reg.genome.network/allele/PA916036594", "coordinates": [ { "allele": "A", "end": 3121, "referenceAllele": "C", "start": 3120 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.286C>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Gln96Lys", "hgvsWellDefined": "NP_001340890.1:p.Gln96Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA303176", "coordinates": [ { "allele": "A", "end": 3192, "referenceAllele": "C", "start": 3191 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.2695C>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Gln899Lys", "hgvsWellDefined": "NP_008851.3:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "A", "end": 3100, "referenceAllele": "C", "start": 3099 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.3100C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "A", "end": 3114, "referenceAllele": "C", "start": 3113 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.3114C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "A", "end": 3086, "referenceAllele": "C", "start": 3085 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.3086C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA303177", "coordinates": [ { "allele": "A", "end": 3206, "referenceAllele": "C", "start": 3205 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.2728C>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Gln910Lys", "hgvsWellDefined": "NP_001159435.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826012555", "coordinates": [ { "allele": "A", "end": 3035, "referenceAllele": "C", "start": 3034 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.2644C>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Gln882Lys", "hgvsWellDefined": "NP_001159436.1:p.Gln882Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826259160", "coordinates": [ { "allele": "A", "end": 2984, "referenceAllele": "C", "start": 2983 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.2728C>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Gln910Lys", "hgvsWellDefined": "NP_001189364.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827751790", "coordinates": [ { "allele": "A", "end": 3027, "referenceAllele": "C", "start": 3026 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.2728C>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Gln910Lys", "hgvsWellDefined": "NP_001340877.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827758404", "coordinates": [ { "allele": "A", "end": 2859, "referenceAllele": "C", "start": 2858 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.2695C>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Gln899Lys", "hgvsWellDefined": "NP_001340878.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827765026", "coordinates": [ { "allele": "A", "end": 2951, "referenceAllele": "C", "start": 2950 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.2695C>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Gln899Lys", "hgvsWellDefined": "NP_001340879.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827770525", "coordinates": [ { "allele": "A", "end": 2994, "referenceAllele": "C", "start": 2993 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.2695C>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Gln899Lys", "hgvsWellDefined": "NP_001340880.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827773514", "coordinates": [ { "allele": "A", "end": 3086, "referenceAllele": "C", "start": 3085 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.2695C>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Gln899Lys", "hgvsWellDefined": "NP_001340881.1:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827776502", "coordinates": [ { "allele": "A", "end": 3083, "referenceAllele": "C", "start": 3082 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.2692C>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Gln898Lys", "hgvsWellDefined": "NP_001340883.1:p.Gln898Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827779488", "coordinates": [ { "allele": "A", "end": 2991, "referenceAllele": "C", "start": 2990 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.2692C>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Gln898Lys", "hgvsWellDefined": "NP_001340884.1:p.Gln898Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827782461", "coordinates": [ { "allele": "A", "end": 2943, "referenceAllele": "C", "start": 2942 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.2644C>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Gln882Lys", "hgvsWellDefined": "NP_001340886.1:p.Gln882Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827785433", "coordinates": [ { "allele": "A", "end": 2900, "referenceAllele": "C", "start": 2899 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.2644C>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Gln882Lys", "hgvsWellDefined": "NP_001340887.1:p.Gln882Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827788393", "coordinates": [ { "allele": "A", "end": 3032, "referenceAllele": "C", "start": 3031 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.2641C>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Gln881Lys", "hgvsWellDefined": "NP_001340889.1:p.Gln881Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "@id": "http://reg.genome.network/allele/PA916036594", "coordinates": [ { "allele": "A", "end": 3102, "referenceAllele": "C", "start": 3101 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.286C>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Gln96Lys", "hgvsWellDefined": "NP_001340890.1:p.Gln96Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA303176", "coordinates": [ { "allele": "A", "end": 3173, "referenceAllele": "C", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.2695C>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Gln899Lys", "hgvsWellDefined": "NP_008851.3:p.Gln899Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "A", "end": 3081, "referenceAllele": "C", "start": 3080 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.3081C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA303177", "coordinates": [ { "allele": "A", "end": 3206, "referenceAllele": "C", "start": 3205 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.2728C>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Gln910Lys", "hgvsWellDefined": "NP_001159435.1:p.Gln910Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.2728C>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.2728C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Gln910Lys" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Gln910Lys" } } } } ], "type": "nucleotide" }