Canonical Allele Identifier: CA303104

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 189848
• ClinVar RCV Id: RCV000180802 ; RCV000188870 ; RCV000636424 ; RCV001004730 ; RCV002313015
• dbSNP Id: rs138877187
• COSMIC: COSM1264979 ; COSM1264980
• MyVariant Identifiers: chr2:g.166901591G>A (hg19) ; chr2:g.166045081G>A (hg38)
• PubMed: PMID:26096185

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166045081G>A , CM000664.2:g.166045081G>A	GRCh38
NC_000002.11:g.166901591G>A , CM000664.1:g.166901591G>A	GRCh37
NC_000002.10:g.166609837G>A	NCBI36
NG_011906.1:g.33559C>T , LRG_8:g.33559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.1624C>T	ENSP00000509637.1:p.Arg542Ter
ENST00000303395.9:c.1624C>T	ENSP00000303540.4:p.Arg542Ter
ENST00000635750.1:c.1624C>T	ENSP00000490799.1:p.Arg542Ter
ENST00000635776.1:c.1624C>T	ENSP00000490692.1:p.Arg542Ter
ENST00000636194.1:c.1624C>T	ENSP00000490288.1:p.Arg542Ter
ENST00000636759.1:c.*1414C>T	ENSP00000490895.1:n.*1414C>T
ENST00000637968.1:n.1876C>T
ENST00000637988.1:c.1624C>T	ENSP00000490780.1:p.Arg542Ter
ENST00000640036.1:c.1624C>T	ENSP00000491573.1:p.Arg542Ter
ENST00000641575.1:c.1621C>T	ENSP00000492917.1:p.Arg541Ter
ENST00000641603.1:c.1624C>T	ENSP00000492945.1:p.Arg542Ter
ENST00000641996.1:c.*1178C>T	ENSP00000493054.1:n.*1178C>T
ENST00000671940.1:c.1624C>T	ENSP00000500336.1:p.Arg542Ter
ENST00000673490.1:n.4097C>T
ENST00000674923.1:c.1624C>T MANE Select	ENSP00000501589.1:p.Arg542Ter
ENST00000303395.8:c.1624C>T	ENSP00000303540.4:p.Arg542Ter
ENST00000375405.7:c.1624C>T	ENSP00000364554.3:p.Arg542Ter
ENST00000409050.1:c.1624C>T	ENSP00000386312.1:p.Arg542Ter
ENST00000423058.6:c.1624C>T	ENSP00000407030.2:p.Arg542Ter
NM_001165963.1:c.1624C>T	NP_001159435.1:p.Arg542Ter
NM_001165964.1:c.1624C>T	NP_001159436.1:p.Arg542Ter
NM_001202435.1:c.1624C>T	NP_001189364.1:p.Arg542Ter
NM_006920.4:c.1624C>T , LRG_8t1:c.1624C>T	NP_008851.3:p.Arg542Ter
XM_011511598.1:c.1624C>T	XP_011509900.1:p.Arg542Ter
XM_011511599.1:c.1624C>T	XP_011509901.1:p.Arg542Ter
XM_011511600.1:c.1624C>T	XP_011509902.1:p.Arg542Ter
XM_011511601.1:c.1624C>T	XP_011509903.1:p.Arg542Ter
XM_011511602.1:c.1624C>T	XP_011509904.1:p.Arg542Ter
XM_011511603.1:c.1621C>T	XP_011509905.1:p.Arg541Ter
XM_011511604.1:c.1624C>T	XP_011509906.1:p.Arg542Ter
XM_011511605.1:c.1621C>T	XP_011509907.1:p.Arg541Ter
XM_011511606.1:c.1624C>T	XP_011509908.1:p.Arg542Ter
XM_011511607.1:c.1624C>T	XP_011509909.1:p.Arg542Ter
XR_922981.1:n.1808C>T
NM_001165963.2:c.1624C>T	NP_001159435.1:p.Arg542Ter
NM_001165964.2:c.1624C>T	NP_001159436.1:p.Arg542Ter
NM_001202435.2:c.1624C>T	NP_001189364.1:p.Arg542Ter
NM_001353948.1:c.1624C>T	NP_001340877.1:p.Arg542Ter
NM_001353949.1:c.1624C>T	NP_001340878.1:p.Arg542Ter
NM_001353950.1:c.1624C>T	NP_001340879.1:p.Arg542Ter
NM_001353951.1:c.1624C>T	NP_001340880.1:p.Arg542Ter
NM_001353952.1:c.1624C>T	NP_001340881.1:p.Arg542Ter
NM_001353954.1:c.1621C>T	NP_001340883.1:p.Arg541Ter
NM_001353955.1:c.1621C>T	NP_001340884.1:p.Arg541Ter
NM_001353957.1:c.1624C>T	NP_001340886.1:p.Arg542Ter
NM_001353958.1:c.1624C>T	NP_001340887.1:p.Arg542Ter
NM_001353960.1:c.1621C>T	NP_001340889.1:p.Arg541Ter
NM_001353961.1:c.-802C>T	NP_001340890.1:n.-802C>T
NM_006920.5:c.1624C>T	NP_008851.3:p.Arg542Ter
NR_148667.1:n.2029C>T
XR_001738883.1:n.2010C>T
XR_001738884.1:n.2015C>T
NM_001165963.3:c.1624C>T	NP_001159435.1:p.Arg542Ter
NM_001165964.3:c.1624C>T	NP_001159436.1:p.Arg542Ter
NM_001202435.3:c.1624C>T	NP_001189364.1:p.Arg542Ter
NM_001353948.2:c.1624C>T	NP_001340877.1:p.Arg542Ter
NM_001353949.2:c.1624C>T	NP_001340878.1:p.Arg542Ter
NM_001353950.2:c.1624C>T	NP_001340879.1:p.Arg542Ter
NM_001353951.2:c.1624C>T	NP_001340880.1:p.Arg542Ter
NM_001353952.2:c.1624C>T	NP_001340881.1:p.Arg542Ter
NM_001353954.2:c.1621C>T	NP_001340883.1:p.Arg541Ter
NM_001353955.2:c.1621C>T	NP_001340884.1:p.Arg541Ter
NM_001353957.2:c.1624C>T	NP_001340886.1:p.Arg542Ter
NM_001353958.2:c.1624C>T	NP_001340887.1:p.Arg542Ter
NM_001353960.2:c.1621C>T	NP_001340889.1:p.Arg541Ter
NM_001353961.2:c.-802C>T	NP_001340890.1:n.-802C>T
NM_006920.6:c.1624C>T	NP_008851.3:p.Arg542Ter
NR_148667.2:n.2010C>T
NM_001165963.4:c.1624C>T MANE Select	NP_001159435.1:p.Arg542Ter