Canonical Allele Identifier: CA349068778

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 2585306
• ClinVar RCV Id: RCV003337922
• MyVariant Identifiers: chr2:g.166848609A>T (hg19) ; chr2:g.165992099A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165992099A>T , CM000664.2:g.165992099A>T	GRCh38
NC_000002.11:g.166848609A>T , CM000664.1:g.166848609A>T	GRCh37
NC_000002.10:g.166556855A>T	NCBI36
NG_011906.1:g.86541T>A , LRG_8:g.86541T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.*3212T>A	ENSP00000509637.1:n.*3212T>A
ENST00000303395.9:c.5176T>A	ENSP00000303540.4:p.Trp1726Arg
ENST00000635750.1:c.5143T>A	ENSP00000490799.1:p.Trp1715Arg
ENST00000635776.1:c.*2009T>A	ENSP00000490692.1:n.*2009T>A
ENST00000636194.1:c.*2669T>A	ENSP00000490288.1:n.*2669T>A
ENST00000637038.1:c.2038T>A
ENST00000637988.1:c.5143T>A	ENSP00000490780.1:p.Trp1715Arg
ENST00000640036.1:c.5143T>A	ENSP00000491573.1:p.Trp1715Arg
ENST00000641575.1:c.5140T>A	ENSP00000492917.1:p.Trp1714Arg
ENST00000641603.1:c.4894T>A	ENSP00000492945.1:p.Trp1632Arg
ENST00000641996.1:c.*4730T>A	ENSP00000493054.1:n.*4730T>A
ENST00000671940.1:c.*3119T>A	ENSP00000500336.1:n.*3119T>A
ENST00000673490.1:n.7649T>A
ENST00000674923.1:c.5176T>A MANE Select	ENSP00000501589.1:p.Trp1726Arg
ENST00000303395.8:c.5176T>A	ENSP00000303540.4:p.Trp1726Arg
ENST00000375405.7:c.5143T>A	ENSP00000364554.3:p.Trp1715Arg
ENST00000409050.1:c.5092T>A	ENSP00000386312.1:p.Trp1698Arg
ENST00000423058.6:c.5176T>A	ENSP00000407030.2:p.Trp1726Arg
NM_001165963.1:c.5176T>A	NP_001159435.1:p.Trp1726Arg
NM_001165964.1:c.5092T>A	NP_001159436.1:p.Trp1698Arg
NM_001202435.1:c.5176T>A	NP_001189364.1:p.Trp1726Arg
NM_006920.4:c.5143T>A , LRG_8t1:c.5143T>A	NP_008851.3:p.Trp1715Arg
NR_110598.1:n.176-23514A>T
XM_011511598.1:c.5176T>A	XP_011509900.1:p.Trp1726Arg
XM_011511599.1:c.5176T>A	XP_011509901.1:p.Trp1726Arg
XM_011511600.1:c.5176T>A	XP_011509902.1:p.Trp1726Arg
XM_011511601.1:c.5176T>A	XP_011509903.1:p.Trp1726Arg
XM_011511602.1:c.5176T>A	XP_011509904.1:p.Trp1726Arg
XM_011511603.1:c.5173T>A	XP_011509905.1:p.Trp1725Arg
XM_011511604.1:c.5143T>A	XP_011509906.1:p.Trp1715Arg
XM_011511605.1:c.5140T>A	XP_011509907.1:p.Trp1714Arg
XM_011511606.1:c.5092T>A	XP_011509908.1:p.Trp1698Arg
XM_011511607.1:c.4894T>A	XP_011509909.1:p.Trp1632Arg
NM_001165963.2:c.5176T>A	NP_001159435.1:p.Trp1726Arg
NM_001165964.2:c.5092T>A	NP_001159436.1:p.Trp1698Arg
NM_001202435.2:c.5176T>A	NP_001189364.1:p.Trp1726Arg
NM_001353948.1:c.5176T>A	NP_001340877.1:p.Trp1726Arg
NM_001353949.1:c.5143T>A	NP_001340878.1:p.Trp1715Arg
NM_001353950.1:c.5143T>A	NP_001340879.1:p.Trp1715Arg
NM_001353951.1:c.5143T>A	NP_001340880.1:p.Trp1715Arg
NM_001353952.1:c.5143T>A	NP_001340881.1:p.Trp1715Arg
NM_001353954.1:c.5140T>A	NP_001340883.1:p.Trp1714Arg
NM_001353955.1:c.5140T>A	NP_001340884.1:p.Trp1714Arg
NM_001353957.1:c.5092T>A	NP_001340886.1:p.Trp1698Arg
NM_001353958.1:c.5092T>A	NP_001340887.1:p.Trp1698Arg
NM_001353960.1:c.5089T>A	NP_001340889.1:p.Trp1697Arg
NM_001353961.1:c.2734T>A	NP_001340890.1:p.Trp912Arg
NM_006920.5:c.5143T>A	NP_008851.3:p.Trp1715Arg
NR_148667.1:n.5612T>A
XR_001738883.1:n.5626T>A
XR_001738884.1:n.5598T>A
NM_001165963.3:c.5176T>A	NP_001159435.1:p.Trp1726Arg
NM_001165964.3:c.5092T>A	NP_001159436.1:p.Trp1698Arg
NM_001202435.3:c.5176T>A	NP_001189364.1:p.Trp1726Arg
NM_001353948.2:c.5176T>A	NP_001340877.1:p.Trp1726Arg
NM_001353949.2:c.5143T>A	NP_001340878.1:p.Trp1715Arg
NM_001353950.2:c.5143T>A	NP_001340879.1:p.Trp1715Arg
NM_001353951.2:c.5143T>A	NP_001340880.1:p.Trp1715Arg
NM_001353952.2:c.5143T>A	NP_001340881.1:p.Trp1715Arg
NM_001353954.2:c.5140T>A	NP_001340883.1:p.Trp1714Arg
NM_001353955.2:c.5140T>A	NP_001340884.1:p.Trp1714Arg
NM_001353957.2:c.5092T>A	NP_001340886.1:p.Trp1698Arg
NM_001353958.2:c.5092T>A	NP_001340887.1:p.Trp1698Arg
NM_001353960.2:c.5089T>A	NP_001340889.1:p.Trp1697Arg
NM_001353961.2:c.2734T>A	NP_001340890.1:p.Trp912Arg
NM_006920.6:c.5143T>A	NP_008851.3:p.Trp1715Arg
NR_148667.2:n.5593T>A
NM_001165963.4:c.5176T>A MANE Select	NP_001159435.1:p.Trp1726Arg