Canonical Allele Identifier: CA349060540

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 967462
• ClinVar RCV Id: RCV001242378
• dbSNP Id: rs1696398838
• MyVariant Identifiers: chr2:g.166893004A>G (hg19) ; chr2:g.166036494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166036494A>G , CM000664.2:g.166036494A>G	GRCh38
NC_000002.11:g.166893004A>G , CM000664.1:g.166893004A>G	GRCh37
NC_000002.10:g.166601250A>G	NCBI36
NG_011906.1:g.42146T>C , LRG_8:g.42146T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*1019T>C	ENSP00000509637.1:n.*1019T>C
ENST00000303395.9:c.2983T>C	ENSP00000303540.4:p.Phe995Leu
ENST00000635750.1:c.2950T>C	ENSP00000490799.1:p.Phe984Leu
ENST00000635776.1:c.2950T>C	ENSP00000490692.1:p.Phe984Leu
ENST00000636194.1:c.*476T>C	ENSP00000490288.1:n.*476T>C
ENST00000637968.1:n.3235T>C
ENST00000637988.1:c.2950T>C	ENSP00000490780.1:p.Phe984Leu
ENST00000640036.1:c.2950T>C	ENSP00000491573.1:p.Phe984Leu
ENST00000641575.1:c.2947T>C	ENSP00000492917.1:p.Phe983Leu
ENST00000641603.1:c.2983T>C	ENSP00000492945.1:p.Phe995Leu
ENST00000641996.1:c.*2537T>C	ENSP00000493054.1:n.*2537T>C
ENST00000671940.1:c.*926T>C	ENSP00000500336.1:n.*926T>C
ENST00000673490.1:n.5456T>C
ENST00000674923.1:c.2983T>C MANE Select	ENSP00000501589.1:p.Phe995Leu
ENST00000303395.8:c.2983T>C	ENSP00000303540.4:p.Phe995Leu
ENST00000375405.7:c.2950T>C	ENSP00000364554.3:p.Phe984Leu
ENST00000409050.1:c.2899T>C	ENSP00000386312.1:p.Phe967Leu
ENST00000423058.6:c.2983T>C	ENSP00000407030.2:p.Phe995Leu
NM_001165963.1:c.2983T>C	NP_001159435.1:p.Phe995Leu
NM_001165964.1:c.2899T>C	NP_001159436.1:p.Phe967Leu
NM_001202435.1:c.2983T>C	NP_001189364.1:p.Phe995Leu
NM_006920.4:c.2950T>C , LRG_8t1:c.2950T>C	NP_008851.3:p.Phe984Leu
XM_011511598.1:c.2983T>C	XP_011509900.1:p.Phe995Leu
XM_011511599.1:c.2983T>C	XP_011509901.1:p.Phe995Leu
XM_011511600.1:c.2983T>C	XP_011509902.1:p.Phe995Leu
XM_011511601.1:c.2983T>C	XP_011509903.1:p.Phe995Leu
XM_011511602.1:c.2983T>C	XP_011509904.1:p.Phe995Leu
XM_011511603.1:c.2980T>C	XP_011509905.1:p.Phe994Leu
XM_011511604.1:c.2950T>C	XP_011509906.1:p.Phe984Leu
XM_011511605.1:c.2947T>C	XP_011509907.1:p.Phe983Leu
XM_011511606.1:c.2899T>C	XP_011509908.1:p.Phe967Leu
XM_011511607.1:c.2983T>C	XP_011509909.1:p.Phe995Leu
XR_922981.1:n.3167T>C
NM_001165963.2:c.2983T>C	NP_001159435.1:p.Phe995Leu
NM_001165964.2:c.2899T>C	NP_001159436.1:p.Phe967Leu
NM_001202435.2:c.2983T>C	NP_001189364.1:p.Phe995Leu
NM_001353948.1:c.2983T>C	NP_001340877.1:p.Phe995Leu
NM_001353949.1:c.2950T>C	NP_001340878.1:p.Phe984Leu
NM_001353950.1:c.2950T>C	NP_001340879.1:p.Phe984Leu
NM_001353951.1:c.2950T>C	NP_001340880.1:p.Phe984Leu
NM_001353952.1:c.2950T>C	NP_001340881.1:p.Phe984Leu
NM_001353954.1:c.2947T>C	NP_001340883.1:p.Phe983Leu
NM_001353955.1:c.2947T>C	NP_001340884.1:p.Phe983Leu
NM_001353957.1:c.2899T>C	NP_001340886.1:p.Phe967Leu
NM_001353958.1:c.2899T>C	NP_001340887.1:p.Phe967Leu
NM_001353960.1:c.2896T>C	NP_001340889.1:p.Phe966Leu
NM_001353961.1:c.541T>C	NP_001340890.1:p.Phe181Leu
NM_006920.5:c.2950T>C	NP_008851.3:p.Phe984Leu
NR_148667.1:n.3355T>C
XR_001738883.1:n.3369T>C
XR_001738884.1:n.3341T>C
NM_001165963.3:c.2983T>C	NP_001159435.1:p.Phe995Leu
NM_001165964.3:c.2899T>C	NP_001159436.1:p.Phe967Leu
NM_001202435.3:c.2983T>C	NP_001189364.1:p.Phe995Leu
NM_001353948.2:c.2983T>C	NP_001340877.1:p.Phe995Leu
NM_001353949.2:c.2950T>C	NP_001340878.1:p.Phe984Leu
NM_001353950.2:c.2950T>C	NP_001340879.1:p.Phe984Leu
NM_001353951.2:c.2950T>C	NP_001340880.1:p.Phe984Leu
NM_001353952.2:c.2950T>C	NP_001340881.1:p.Phe984Leu
NM_001353954.2:c.2947T>C	NP_001340883.1:p.Phe983Leu
NM_001353955.2:c.2947T>C	NP_001340884.1:p.Phe983Leu
NM_001353957.2:c.2899T>C	NP_001340886.1:p.Phe967Leu
NM_001353958.2:c.2899T>C	NP_001340887.1:p.Phe967Leu
NM_001353960.2:c.2896T>C	NP_001340889.1:p.Phe966Leu
NM_001353961.2:c.541T>C	NP_001340890.1:p.Phe181Leu
NM_006920.6:c.2950T>C	NP_008851.3:p.Phe984Leu
NR_148667.2:n.3336T>C
NM_001165963.4:c.2983T>C MANE Select	NP_001159435.1:p.Phe995Leu