Canonical Allele Identifier: CA317736
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206918
ClinVar RCV Id: RCV000189060
dbSNP Id: rs796053080

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165994220_165994221del , CM000664.2:g.165994220_165994221del GRCh38
NC_000002.11:g.166850730_166850731del , CM000664.1:g.166850730_166850731del GRCh37
NC_000002.10:g.166558976_166558977del NCBI36
NG_011906.1:g.84419_84420del , LRG_8:g.84419_84420del

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*2813_*2814del ENSP00000509637.1:n.*2813_*2814del
ENST00000303395.9:c.4777_4778del ENSP00000303540.4:p.Ile1593LeufsTer15
ENST00000635750.1:c.4744_4745del ENSP00000490799.1:p.Ile1582LeufsTer15
ENST00000635776.1:c.4744_4745del ENSP00000490692.1:p.Ile1582LeufsTer15
ENST00000636194.1:c.*2270_*2271del ENSP00000490288.1:n.*2270_*2271del
ENST00000637038.1:c.1639_1640del
ENST00000637988.1:c.4744_4745del ENSP00000490780.1:p.Ile1582LeufsTer15
ENST00000640036.1:c.4744_4745del ENSP00000491573.1:p.Ile1582LeufsTer15
ENST00000641575.1:c.4741_4742del ENSP00000492917.1:p.Ile1581LeufsTer15
ENST00000641603.1:c.4495_4496del ENSP00000492945.1:p.Ile1499LeufsTer15
ENST00000641996.1:c.*4331_*4332del ENSP00000493054.1:n.*4331_*4332del
ENST00000671940.1:c.*2720_*2721del ENSP00000500336.1:n.*2720_*2721del
ENST00000673490.1:n.7250_7251del
ENST00000674923.1:c.4777_4778del MANE Select ENSP00000501589.1:p.Ile1593LeufsTer15
ENST00000303395.8:c.4777_4778del ENSP00000303540.4:p.Ile1593LeufsTer15
ENST00000375405.7:c.4744_4745del ENSP00000364554.3:p.Ile1582LeufsTer15
ENST00000409050.1:c.4693_4694del ENSP00000386312.1:p.Ile1565LeufsTer15
ENST00000423058.6:c.4777_4778del ENSP00000407030.2:p.Ile1593LeufsTer15
ENST00000625916.1:n.506_507del
NM_001165963.1:c.4777_4778del NP_001159435.1:p.Ile1593LeufsTer15
NM_001165964.1:c.4693_4694del NP_001159436.1:p.Ile1565LeufsTer15
NM_001202435.1:c.4777_4778del NP_001189364.1:p.Ile1593LeufsTer15
NM_006920.4:c.4744_4745del , LRG_8t1:c.4744_4745del NP_008851.3:p.Ile1582LeufsTer15
NR_110598.1:n.176-21393_176-21392del
XM_011511598.1:c.4777_4778del XP_011509900.1:p.Ile1593LeufsTer15
XM_011511599.1:c.4777_4778del XP_011509901.1:p.Ile1593LeufsTer15
XM_011511600.1:c.4777_4778del XP_011509902.1:p.Ile1593LeufsTer15
XM_011511601.1:c.4777_4778del XP_011509903.1:p.Ile1593LeufsTer15
XM_011511602.1:c.4777_4778del XP_011509904.1:p.Ile1593LeufsTer15
XM_011511603.1:c.4774_4775del XP_011509905.1:p.Ile1592LeufsTer15
XM_011511604.1:c.4744_4745del XP_011509906.1:p.Ile1582LeufsTer15
XM_011511605.1:c.4741_4742del XP_011509907.1:p.Ile1581LeufsTer15
XM_011511606.1:c.4693_4694del XP_011509908.1:p.Ile1565LeufsTer15
XM_011511607.1:c.4495_4496del XP_011509909.1:p.Ile1499LeufsTer15
NM_001165963.2:c.4777_4778del NP_001159435.1:p.Ile1593LeufsTer15
NM_001165964.2:c.4693_4694del NP_001159436.1:p.Ile1565LeufsTer15
NM_001202435.2:c.4777_4778del NP_001189364.1:p.Ile1593LeufsTer15
NM_001353948.1:c.4777_4778del NP_001340877.1:p.Ile1593LeufsTer15
NM_001353949.1:c.4744_4745del NP_001340878.1:p.Ile1582LeufsTer15
NM_001353950.1:c.4744_4745del NP_001340879.1:p.Ile1582LeufsTer15
NM_001353951.1:c.4744_4745del NP_001340880.1:p.Ile1582LeufsTer15
NM_001353952.1:c.4744_4745del NP_001340881.1:p.Ile1582LeufsTer15
NM_001353954.1:c.4741_4742del NP_001340883.1:p.Ile1581LeufsTer15
NM_001353955.1:c.4741_4742del NP_001340884.1:p.Ile1581LeufsTer15
NM_001353957.1:c.4693_4694del NP_001340886.1:p.Ile1565LeufsTer15
NM_001353958.1:c.4693_4694del NP_001340887.1:p.Ile1565LeufsTer15
NM_001353960.1:c.4690_4691del NP_001340889.1:p.Ile1564LeufsTer15
NM_001353961.1:c.2335_2336del NP_001340890.1:p.Ile779LeufsTer15
NM_006920.5:c.4744_4745del NP_008851.3:p.Ile1582LeufsTer15
NR_148667.1:n.5213_5214del
XR_001738883.1:n.5227_5228del
XR_001738884.1:n.5199_5200del
NM_001165963.3:c.4777_4778del NP_001159435.1:p.Ile1593LeufsTer15
NM_001165964.3:c.4693_4694del NP_001159436.1:p.Ile1565LeufsTer15
NM_001202435.3:c.4777_4778del NP_001189364.1:p.Ile1593LeufsTer15
NM_001353948.2:c.4777_4778del NP_001340877.1:p.Ile1593LeufsTer15
NM_001353949.2:c.4744_4745del NP_001340878.1:p.Ile1582LeufsTer15
NM_001353950.2:c.4744_4745del NP_001340879.1:p.Ile1582LeufsTer15
NM_001353951.2:c.4744_4745del NP_001340880.1:p.Ile1582LeufsTer15
NM_001353952.2:c.4744_4745del NP_001340881.1:p.Ile1582LeufsTer15
NM_001353954.2:c.4741_4742del NP_001340883.1:p.Ile1581LeufsTer15
NM_001353955.2:c.4741_4742del NP_001340884.1:p.Ile1581LeufsTer15
NM_001353957.2:c.4693_4694del NP_001340886.1:p.Ile1565LeufsTer15
NM_001353958.2:c.4693_4694del NP_001340887.1:p.Ile1565LeufsTer15
NM_001353960.2:c.4690_4691del NP_001340889.1:p.Ile1564LeufsTer15
NM_001353961.2:c.2335_2336del NP_001340890.1:p.Ile779LeufsTer15
NM_006920.6:c.4744_4745del NP_008851.3:p.Ile1582LeufsTer15
NR_148667.2:n.5194_5195del
NM_001165963.4:c.4777_4778del MANE Select NP_001159435.1:p.Ile1593LeufsTer15