{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA317752", "communityStandardTitle": [ "NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201624[alleleid]", "alleleId": 201624, "preferredName": "NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206928", "RCV": [ "RCV000189072", "RCV000636394", "RCV001252613" ], "variationId": 206928 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166912922C>G?assembly=hg19", "id": "chr2:g.166912922C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.166056412C>G?assembly=hg38", "id": "chr2:g.166056412C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/796053090", "rs": 796053090 } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 166056412, "referenceAllele": "C", "start": 166056411 } ], "hgvs": [ "NC_000002.12:g.166056412C>G", "CM000664.2:g.166056412C>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 166912922, "referenceAllele": "C", "start": 166912921 } ], "hgvs": [ "NC_000002.11:g.166912922C>G", "CM000664.1:g.166912922C>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "G", "end": 166621168, "referenceAllele": "C", "start": 166621167 } ], "hgvs": [ "NC_000002.10:g.166621168C>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "C", "end": 22228, "referenceAllele": "G", "start": 22227 } ], "hgvs": [ "NG_011906.1:g.22228G>C", "LRG_8:g.22228G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS002054" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 521, "referenceAllele": "G", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000689288.1:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000509637.1:p.Glu158Gln", "hgvsWellDefined": "ENSP00000509637.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS832093" }, { "coordinates": [ { "allele": "C", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.9:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Glu158Gln", "hgvsWellDefined": "ENSP00000303540.4:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS745029" }, { "coordinates": [ { "allele": "C", "end": 689, "referenceAllele": "G", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635750.1:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000490799.1:p.Glu158Gln", "hgvsWellDefined": "ENSP00000490799.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS762613" }, { "coordinates": [ { "allele": "C", "end": 774, "referenceAllele": "G", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000635776.1:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000490692.1:p.Glu158Gln", "hgvsWellDefined": "ENSP00000490692.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS762634" }, { "coordinates": [ { "allele": "C", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636194.1:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000490288.1:p.Glu158Gln", "hgvsWellDefined": "ENSP00000490288.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS762941" }, { "coordinates": [ { "allele": "C", "end": 1132, "referenceAllele": "G", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000636759.1:c.*262G>C" ], "proteinEffect": { "hgvs": "ENSP00000490895.1:n.*262G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS763360" }, { "coordinates": [ { "allele": "C", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637968.1:n.724G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS764246" }, { "coordinates": [ { "allele": "C", "end": 952, "referenceAllele": "G", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000637988.1:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000490780.1:p.Glu158Gln", "hgvsWellDefined": "ENSP00000490780.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS764260" }, { "coordinates": [ { "allele": "C", "end": 521, "referenceAllele": "G", "start": 520 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000640036.1:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000491573.1:p.Glu158Gln", "hgvsWellDefined": "ENSP00000491573.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS765301" }, { "coordinates": [ { "allele": "C", "end": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641575.1:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000492917.1:p.Glu158Gln", "hgvsWellDefined": "ENSP00000492917.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766184" }, { "coordinates": [ { "allele": "C", "end": 626, "referenceAllele": "G", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641603.1:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000492945.1:p.Glu158Gln", "hgvsWellDefined": "ENSP00000492945.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766204" }, { "coordinates": [ { "allele": "C", "end": 741, "referenceAllele": "G", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000641996.1:c.*26G>C" ], "proteinEffect": { "hgvs": "ENSP00000493054.1:n.*26G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS766485" }, { "coordinates": [ { "allele": "C", "end": 858, "referenceAllele": "G", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000671940.1:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000500336.1:p.Glu158Gln", "hgvsWellDefined": "ENSP00000500336.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS773217" }, { "coordinates": [ { "allele": "C", "end": 2945, "referenceAllele": "G", "start": 2944 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000673490.1:n.2945G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS773702" }, { "coordinates": [ { "allele": "C", "end": 950, "referenceAllele": "G", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000674923.1:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000501589.1:p.Glu158Gln", "hgvsWellDefined": "ENSP00000501589.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS774809", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.472G>C" }, "RefSeq": { "hgvs": "NM_001165963.4:c.472G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Glu158Gln" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Glu158Gln" } } } }, { "coordinates": [ { "allele": "C", "end": 890, "referenceAllele": "G", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000303395.8:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000303540.4:p.Glu158Gln", "hgvsWellDefined": "ENSP00000303540.4:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS255312" }, { "coordinates": [ { "allele": "C", "end": 490, "referenceAllele": "G", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000375405.7:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000364554.3:p.Glu158Gln", "hgvsWellDefined": "ENSP00000364554.3:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS270694" }, { "coordinates": [ { "allele": "C", "end": 472, "referenceAllele": "G", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000409050.1:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000386312.1:p.Glu158Gln", "hgvsWellDefined": "ENSP00000386312.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS281214" }, { "coordinates": [ { "allele": "C", "end": 548, "referenceAllele": "G", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "ENST00000423058.6:c.472G>C" ], "proteinEffect": { "hgvs": "ENSP00000407030.2:p.Glu158Gln", "hgvsWellDefined": "ENSP00000407030.2:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS287573" }, { "@id": "http://reg.genome.network/allele/PA317754", "coordinates": [ { "allele": "C", "end": 490, "referenceAllele": "G", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Glu158Gln", "hgvsWellDefined": "NP_001159435.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014743" }, { "@id": "http://reg.genome.network/allele/PA2826011524", "coordinates": [ { "allele": "C", "end": 490, "referenceAllele": "G", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Glu158Gln", "hgvsWellDefined": "NP_001159436.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS014744" }, { "@id": "http://reg.genome.network/allele/PA2826258104", "coordinates": [ { "allele": "C", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Glu158Gln", "hgvsWellDefined": "NP_001189364.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS017403" }, { "@id": "http://reg.genome.network/allele/PA317755", "coordinates": [ { "allele": "C", "end": 490, "referenceAllele": "G", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.4:c.472G>C", "LRG_8t1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Glu158Gln", "hgvsWellDefined": "NP_008851.3:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS031895" }, { "coordinates": [ { "allele": "C", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511598.1:c.472G>C" ], "proteinEffect": { "hgvs": "XP_011509900.1:p.Glu158Gln", "hgvsWellDefined": "XP_011509900.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078859" }, { "coordinates": [ { "allele": "C", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511599.1:c.472G>C" ], "proteinEffect": { "hgvs": "XP_011509901.1:p.Glu158Gln", "hgvsWellDefined": "XP_011509901.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078860" }, { "coordinates": [ { "allele": "C", "end": 747, "referenceAllele": "G", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511600.1:c.472G>C" ], "proteinEffect": { "hgvs": "XP_011509902.1:p.Glu158Gln", "hgvsWellDefined": "XP_011509902.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078861" }, { "coordinates": [ { "allele": "C", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511601.1:c.472G>C" ], "proteinEffect": { "hgvs": "XP_011509903.1:p.Glu158Gln", "hgvsWellDefined": "XP_011509903.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078862" }, { "coordinates": [ { "allele": "C", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511602.1:c.472G>C" ], "proteinEffect": { "hgvs": "XP_011509904.1:p.Glu158Gln", "hgvsWellDefined": "XP_011509904.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078863" }, { "coordinates": [ { "allele": "C", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511603.1:c.472G>C" ], "proteinEffect": { "hgvs": "XP_011509905.1:p.Glu158Gln", "hgvsWellDefined": "XP_011509905.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078864" }, { "coordinates": [ { "allele": "C", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511604.1:c.472G>C" ], "proteinEffect": { "hgvs": "XP_011509906.1:p.Glu158Gln", "hgvsWellDefined": "XP_011509906.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078865" }, { "coordinates": [ { "allele": "C", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511605.1:c.472G>C" ], "proteinEffect": { "hgvs": "XP_011509907.1:p.Glu158Gln", "hgvsWellDefined": "XP_011509907.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078866" }, { "coordinates": [ { "allele": "C", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511606.1:c.472G>C" ], "proteinEffect": { "hgvs": "XP_011509908.1:p.Glu158Gln", "hgvsWellDefined": "XP_011509908.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078867" }, { "coordinates": [ { "allele": "C", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.472G>C" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Glu158Gln", "hgvsWellDefined": "XP_011509909.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS078868" }, { "coordinates": [ { "allele": "C", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_922981.1:n.656G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS120043" }, { "@id": "http://reg.genome.network/allele/PA317754", "coordinates": [ { "allele": "C", "end": 969, "referenceAllele": "G", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Glu158Gln", "hgvsWellDefined": "NP_001159435.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511667" }, { "@id": "http://reg.genome.network/allele/PA2826011524", "coordinates": [ { "allele": "C", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Glu158Gln", "hgvsWellDefined": "NP_001159436.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511668" }, { "@id": "http://reg.genome.network/allele/PA2826258104", "coordinates": [ { "allele": "C", "end": 783, "referenceAllele": "G", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Glu158Gln", "hgvsWellDefined": "NP_001189364.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS511850" }, { "@id": "http://reg.genome.network/allele/PA2827749471", "coordinates": [ { "allele": "C", "end": 790, "referenceAllele": "G", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340877.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522051" }, { "@id": "http://reg.genome.network/allele/PA2827756096", "coordinates": [ { "allele": "C", "end": 691, "referenceAllele": "G", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340878.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522052" }, { "@id": "http://reg.genome.network/allele/PA2827762741", "coordinates": [ { "allele": "C", "end": 783, "referenceAllele": "G", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340879.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522053" }, { "@id": "http://reg.genome.network/allele/PA2827769252", "coordinates": [ { "allele": "C", "end": 790, "referenceAllele": "G", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340880.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522054" }, { "@id": "http://reg.genome.network/allele/PA2827772468", "coordinates": [ { "allele": "C", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340881.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522055" }, { "@id": "http://reg.genome.network/allele/PA2827775456", "coordinates": [ { "allele": "C", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340883.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522056" }, { "@id": "http://reg.genome.network/allele/PA2827778443", "coordinates": [ { "allele": "C", "end": 790, "referenceAllele": "G", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340884.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522057" }, { "@id": "http://reg.genome.network/allele/PA2827781429", "coordinates": [ { "allele": "C", "end": 790, "referenceAllele": "G", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340886.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522058" }, { "@id": "http://reg.genome.network/allele/PA2827784401", "coordinates": [ { "allele": "C", "end": 783, "referenceAllele": "G", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340887.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522059" }, { "@id": "http://reg.genome.network/allele/PA2827787362", "coordinates": [ { "allele": "C", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340889.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS522060" }, { "coordinates": [ { "allele": "C", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.-1954G>C" ], "proteinEffect": { "hgvs": "NP_001340890.1:n.-1954G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS522061" }, { "@id": "http://reg.genome.network/allele/PA317755", "coordinates": [ { "allele": "C", "end": 969, "referenceAllele": "G", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.472G>C" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Glu158Gln", "hgvsWellDefined": "NP_008851.3:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "C", "end": 877, "referenceAllele": "G", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.877G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "C", "end": 858, "referenceAllele": "G", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.858G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "C", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.863G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA317754", "coordinates": [ { "allele": "C", "end": 950, "referenceAllele": "G", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Glu158Gln", "hgvsWellDefined": "NP_001159435.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS678433" }, { "@id": "http://reg.genome.network/allele/PA2826011524", "coordinates": [ { "allele": "C", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Glu158Gln", "hgvsWellDefined": "NP_001159436.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS678434" }, { "@id": "http://reg.genome.network/allele/PA2826258104", "coordinates": [ { "allele": "C", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Glu158Gln", "hgvsWellDefined": "NP_001189364.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS679700" }, { "@id": "http://reg.genome.network/allele/PA2827749471", "coordinates": [ { "allele": "C", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340877.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS689996" }, { "@id": "http://reg.genome.network/allele/PA2827756096", "coordinates": [ { "allele": "C", "end": 636, "referenceAllele": "G", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340878.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS689997" }, { "@id": "http://reg.genome.network/allele/PA2827762741", "coordinates": [ { "allele": "C", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340879.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS689998" }, { "@id": "http://reg.genome.network/allele/PA2827769252", "coordinates": [ { "allele": "C", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340880.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS689999" }, { "@id": "http://reg.genome.network/allele/PA2827772468", "coordinates": [ { "allele": "C", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340881.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690000" }, { "@id": "http://reg.genome.network/allele/PA2827775456", "coordinates": [ { "allele": "C", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340883.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690001" }, { "@id": "http://reg.genome.network/allele/PA2827778443", "coordinates": [ { "allele": "C", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340884.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827781429", "coordinates": [ { "allele": "C", "end": 771, "referenceAllele": "G", "start": 770 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340886.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827784401", "coordinates": [ { "allele": "C", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340887.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827787362", "coordinates": [ { "allele": "C", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Glu158Gln", "hgvsWellDefined": "NP_001340889.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "coordinates": [ { "allele": "C", "end": 863, "referenceAllele": "G", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.-1954G>C" ], "proteinEffect": { "hgvs": "NP_001340890.1:n.-1954G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA317755", "coordinates": [ { "allele": "C", "end": 950, "referenceAllele": "G", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.472G>C" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Glu158Gln", "hgvsWellDefined": "NP_008851.3:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "C", "end": 858, "referenceAllele": "G", "start": 857 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.858G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA317754", "coordinates": [ { "allele": "C", "end": 950, "referenceAllele": "G", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.472G>C" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Glu158Gln", "hgvsWellDefined": "NP_001159435.1:p.Glu158Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.472G>C" }, "RefSeq": { "hgvs": "NM_001165963.4:c.472G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Glu158Gln" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Glu158Gln" } } } } ], "type": "nucleotide" }