Canonical Allele Identifier: CA303158

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 189870
• ClinVar RCV Id: RCV000180823 ; RCV000188982 ; RCV000804066 ; RCV003128152
• dbSNP Id: rs199727342
• MyVariant Identifiers: chr2:g.166848879G>A (hg19) ; chr2:g.165992369G>A (hg38)
• PubMed: PMID:21248271 ; PMID:23891399 ; PMID:26096185

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165992369G>A , CM000664.2:g.165992369G>A	GRCh38
NC_000002.11:g.166848879G>A , CM000664.1:g.166848879G>A	GRCh37
NC_000002.10:g.166557125G>A	NCBI36
NG_011906.1:g.86271C>T , LRG_8:g.86271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2942C>T	ENSP00000509637.1:n.*2942C>T
ENST00000303395.9:c.4906C>T	ENSP00000303540.4:p.Arg1636Ter
ENST00000635750.1:c.4873C>T	ENSP00000490799.1:p.Arg1625Ter
ENST00000635776.1:c.*1739C>T	ENSP00000490692.1:n.*1739C>T
ENST00000636194.1:c.*2399C>T	ENSP00000490288.1:n.*2399C>T
ENST00000637038.1:c.1768C>T
ENST00000637988.1:c.4873C>T	ENSP00000490780.1:p.Arg1625Ter
ENST00000640036.1:c.4873C>T	ENSP00000491573.1:p.Arg1625Ter
ENST00000641575.1:c.4870C>T	ENSP00000492917.1:p.Arg1624Ter
ENST00000641603.1:c.4624C>T	ENSP00000492945.1:p.Arg1542Ter
ENST00000641996.1:c.*4460C>T	ENSP00000493054.1:n.*4460C>T
ENST00000671940.1:c.*2849C>T	ENSP00000500336.1:n.*2849C>T
ENST00000673490.1:n.7379C>T
ENST00000674923.1:c.4906C>T MANE Select	ENSP00000501589.1:p.Arg1636Ter
ENST00000303395.8:c.4906C>T	ENSP00000303540.4:p.Arg1636Ter
ENST00000375405.7:c.4873C>T	ENSP00000364554.3:p.Arg1625Ter
ENST00000409050.1:c.4822C>T	ENSP00000386312.1:p.Arg1608Ter
ENST00000423058.6:c.4906C>T	ENSP00000407030.2:p.Arg1636Ter
NM_001165963.1:c.4906C>T	NP_001159435.1:p.Arg1636Ter
NM_001165964.1:c.4822C>T	NP_001159436.1:p.Arg1608Ter
NM_001202435.1:c.4906C>T	NP_001189364.1:p.Arg1636Ter
NM_006920.4:c.4873C>T , LRG_8t1:c.4873C>T	NP_008851.3:p.Arg1625Ter
NR_110598.1:n.176-23244G>A
XM_011511598.1:c.4906C>T	XP_011509900.1:p.Arg1636Ter
XM_011511599.1:c.4906C>T	XP_011509901.1:p.Arg1636Ter
XM_011511600.1:c.4906C>T	XP_011509902.1:p.Arg1636Ter
XM_011511601.1:c.4906C>T	XP_011509903.1:p.Arg1636Ter
XM_011511602.1:c.4906C>T	XP_011509904.1:p.Arg1636Ter
XM_011511603.1:c.4903C>T	XP_011509905.1:p.Arg1635Ter
XM_011511604.1:c.4873C>T	XP_011509906.1:p.Arg1625Ter
XM_011511605.1:c.4870C>T	XP_011509907.1:p.Arg1624Ter
XM_011511606.1:c.4822C>T	XP_011509908.1:p.Arg1608Ter
XM_011511607.1:c.4624C>T	XP_011509909.1:p.Arg1542Ter
NM_001165963.2:c.4906C>T	NP_001159435.1:p.Arg1636Ter
NM_001165964.2:c.4822C>T	NP_001159436.1:p.Arg1608Ter
NM_001202435.2:c.4906C>T	NP_001189364.1:p.Arg1636Ter
NM_001353948.1:c.4906C>T	NP_001340877.1:p.Arg1636Ter
NM_001353949.1:c.4873C>T	NP_001340878.1:p.Arg1625Ter
NM_001353950.1:c.4873C>T	NP_001340879.1:p.Arg1625Ter
NM_001353951.1:c.4873C>T	NP_001340880.1:p.Arg1625Ter
NM_001353952.1:c.4873C>T	NP_001340881.1:p.Arg1625Ter
NM_001353954.1:c.4870C>T	NP_001340883.1:p.Arg1624Ter
NM_001353955.1:c.4870C>T	NP_001340884.1:p.Arg1624Ter
NM_001353957.1:c.4822C>T	NP_001340886.1:p.Arg1608Ter
NM_001353958.1:c.4822C>T	NP_001340887.1:p.Arg1608Ter
NM_001353960.1:c.4819C>T	NP_001340889.1:p.Arg1607Ter
NM_001353961.1:c.2464C>T	NP_001340890.1:p.Arg822Ter
NM_006920.5:c.4873C>T	NP_008851.3:p.Arg1625Ter
NR_148667.1:n.5342C>T
XR_001738883.1:n.5356C>T
XR_001738884.1:n.5328C>T
NM_001165963.3:c.4906C>T	NP_001159435.1:p.Arg1636Ter
NM_001165964.3:c.4822C>T	NP_001159436.1:p.Arg1608Ter
NM_001202435.3:c.4906C>T	NP_001189364.1:p.Arg1636Ter
NM_001353948.2:c.4906C>T	NP_001340877.1:p.Arg1636Ter
NM_001353949.2:c.4873C>T	NP_001340878.1:p.Arg1625Ter
NM_001353950.2:c.4873C>T	NP_001340879.1:p.Arg1625Ter
NM_001353951.2:c.4873C>T	NP_001340880.1:p.Arg1625Ter
NM_001353952.2:c.4873C>T	NP_001340881.1:p.Arg1625Ter
NM_001353954.2:c.4870C>T	NP_001340883.1:p.Arg1624Ter
NM_001353955.2:c.4870C>T	NP_001340884.1:p.Arg1624Ter
NM_001353957.2:c.4822C>T	NP_001340886.1:p.Arg1608Ter
NM_001353958.2:c.4822C>T	NP_001340887.1:p.Arg1608Ter
NM_001353960.2:c.4819C>T	NP_001340889.1:p.Arg1607Ter
NM_001353961.2:c.2464C>T	NP_001340890.1:p.Arg822Ter
NM_006920.6:c.4873C>T	NP_008851.3:p.Arg1625Ter
NR_148667.2:n.5323C>T
NM_001165963.4:c.4906C>T MANE Select	NP_001159435.1:p.Arg1636Ter