Canonical Allele Identifier: CA16610151
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 408936
ClinVar RCV Id: RCV000472521
dbSNP Id: rs1060502190

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166002489G>C , CM000664.2:g.166002489G>C GRCh38
NC_000002.11:g.166858999G>C , CM000664.1:g.166858999G>C GRCh37
NC_000002.10:g.166567245G>C NCBI36
NG_011906.1:g.76151C>G , LRG_8:g.76151C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000689288.1:c.*2303C>G ENSP00000509637.1:n.*2303C>G
ENST00000303395.9:c.4267C>G ENSP00000303540.4:p.Leu1423Val
ENST00000635750.1:c.4234C>G ENSP00000490799.1:p.Leu1412Val
ENST00000635776.1:c.4234C>G ENSP00000490692.1:p.Leu1412Val
ENST00000636194.1:c.*1760C>G ENSP00000490288.1:n.*1760C>G
ENST00000637038.1:c.1129C>G
ENST00000637988.1:c.4234C>G ENSP00000490780.1:p.Leu1412Val
ENST00000640036.1:c.4234C>G ENSP00000491573.1:p.Leu1412Val
ENST00000641575.1:c.4231C>G ENSP00000492917.1:p.Leu1411Val
ENST00000641603.1:c.4003-2713C>G ENSP00000492945.1:n.4003-2713C>G
ENST00000641996.1:c.*3821C>G ENSP00000493054.1:n.*3821C>G
ENST00000671940.1:c.*2210C>G ENSP00000500336.1:n.*2210C>G
ENST00000673490.1:n.6740C>G
ENST00000674923.1:c.4267C>G MANE Select ENSP00000501589.1:p.Leu1423Val
ENST00000303395.8:c.4267C>G ENSP00000303540.4:p.Leu1423Val
ENST00000375405.7:c.4234C>G ENSP00000364554.3:p.Leu1412Val
ENST00000409050.1:c.4183C>G ENSP00000386312.1:p.Leu1395Val
ENST00000423058.6:c.4267C>G ENSP00000407030.2:p.Leu1423Val
ENST00000491429.1:n.420C>G
NM_001165963.1:c.4267C>G NP_001159435.1:p.Leu1423Val
NM_001165964.1:c.4183C>G NP_001159436.1:p.Leu1395Val
NM_001202435.1:c.4267C>G NP_001189364.1:p.Leu1423Val
NM_006920.4:c.4234C>G , LRG_8t1:c.4234C>G NP_008851.3:p.Leu1412Val
NR_110598.1:n.176-13124G>C
XM_011511598.1:c.4267C>G XP_011509900.1:p.Leu1423Val
XM_011511599.1:c.4267C>G XP_011509901.1:p.Leu1423Val
XM_011511600.1:c.4267C>G XP_011509902.1:p.Leu1423Val
XM_011511601.1:c.4267C>G XP_011509903.1:p.Leu1423Val
XM_011511602.1:c.4267C>G XP_011509904.1:p.Leu1423Val
XM_011511603.1:c.4264C>G XP_011509905.1:p.Leu1422Val
XM_011511604.1:c.4234C>G XP_011509906.1:p.Leu1412Val
XM_011511605.1:c.4231C>G XP_011509907.1:p.Leu1411Val
XM_011511606.1:c.4183C>G XP_011509908.1:p.Leu1395Val
XM_011511607.1:c.4003-2713C>G XP_011509909.1:n.4003-2713C>G
XR_922981.1:n.4515C>G
NM_001165963.2:c.4267C>G NP_001159435.1:p.Leu1423Val
NM_001165964.2:c.4183C>G NP_001159436.1:p.Leu1395Val
NM_001202435.2:c.4267C>G NP_001189364.1:p.Leu1423Val
NM_001353948.1:c.4267C>G NP_001340877.1:p.Leu1423Val
NM_001353949.1:c.4234C>G NP_001340878.1:p.Leu1412Val
NM_001353950.1:c.4234C>G NP_001340879.1:p.Leu1412Val
NM_001353951.1:c.4234C>G NP_001340880.1:p.Leu1412Val
NM_001353952.1:c.4234C>G NP_001340881.1:p.Leu1412Val
NM_001353954.1:c.4231C>G NP_001340883.1:p.Leu1411Val
NM_001353955.1:c.4231C>G NP_001340884.1:p.Leu1411Val
NM_001353957.1:c.4183C>G NP_001340886.1:p.Leu1395Val
NM_001353958.1:c.4183C>G NP_001340887.1:p.Leu1395Val
NM_001353960.1:c.4180C>G NP_001340889.1:p.Leu1394Val
NM_001353961.1:c.1825C>G NP_001340890.1:p.Leu609Val
NM_006920.5:c.4234C>G NP_008851.3:p.Leu1412Val
NR_148667.1:n.4703C>G
XR_001738883.1:n.4717C>G
XR_001738884.1:n.4689C>G
NM_001165963.3:c.4267C>G NP_001159435.1:p.Leu1423Val
NM_001165964.3:c.4183C>G NP_001159436.1:p.Leu1395Val
NM_001202435.3:c.4267C>G NP_001189364.1:p.Leu1423Val
NM_001353948.2:c.4267C>G NP_001340877.1:p.Leu1423Val
NM_001353949.2:c.4234C>G NP_001340878.1:p.Leu1412Val
NM_001353950.2:c.4234C>G NP_001340879.1:p.Leu1412Val
NM_001353951.2:c.4234C>G NP_001340880.1:p.Leu1412Val
NM_001353952.2:c.4234C>G NP_001340881.1:p.Leu1412Val
NM_001353954.2:c.4231C>G NP_001340883.1:p.Leu1411Val
NM_001353955.2:c.4231C>G NP_001340884.1:p.Leu1411Val
NM_001353957.2:c.4183C>G NP_001340886.1:p.Leu1395Val
NM_001353958.2:c.4183C>G NP_001340887.1:p.Leu1395Val
NM_001353960.2:c.4180C>G NP_001340889.1:p.Leu1394Val
NM_001353961.2:c.1825C>G NP_001340890.1:p.Leu609Val
NM_006920.6:c.4234C>G NP_008851.3:p.Leu1412Val
NR_148667.2:n.4684C>G
NM_001165963.4:c.4267C>G MANE Select NP_001159435.1:p.Leu1423Val