Canonical Allele Identifier: CA275462

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 202173
• ClinVar RCV Id: RCV000986878
• dbSNP Id: rs794729200
• MyVariant Identifiers: chr2:g.166854580T>G (hg19) ; chr2:g.165998070T>G (hg38)
• PubMed: PMID:16713920 ; PMID:20301494 ; PMID:20831750

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165998070T>G , CM000664.2:g.165998070T>G	GRCh38
NC_000002.11:g.166854580T>G , CM000664.1:g.166854580T>G	GRCh37
NC_000002.10:g.166562826T>G	NCBI36
NG_011906.1:g.80570A>C , LRG_8:g.80570A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2480A>C	ENSP00000509637.1:n.*2480A>C
ENST00000303395.9:c.4444A>C	ENSP00000303540.4:p.Ile1482Leu
ENST00000635750.1:c.4411A>C	ENSP00000490799.1:p.Ile1471Leu
ENST00000635776.1:c.4411A>C	ENSP00000490692.1:p.Ile1471Leu
ENST00000636194.1:c.*1937A>C	ENSP00000490288.1:n.*1937A>C
ENST00000637038.1:c.1306A>C
ENST00000637988.1:c.4411A>C	ENSP00000490780.1:p.Ile1471Leu
ENST00000640036.1:c.4411A>C	ENSP00000491573.1:p.Ile1471Leu
ENST00000641575.1:c.4408A>C	ENSP00000492917.1:p.Ile1470Leu
ENST00000641603.1:c.4162A>C	ENSP00000492945.1:p.Ile1388Leu
ENST00000641996.1:c.*3998A>C	ENSP00000493054.1:n.*3998A>C
ENST00000671940.1:c.*2387A>C	ENSP00000500336.1:n.*2387A>C
ENST00000673490.1:n.6917A>C
ENST00000674923.1:c.4444A>C MANE Select	ENSP00000501589.1:p.Ile1482Leu
ENST00000303395.8:c.4444A>C	ENSP00000303540.4:p.Ile1482Leu
ENST00000375405.7:c.4411A>C	ENSP00000364554.3:p.Ile1471Leu
ENST00000409050.1:c.4360A>C	ENSP00000386312.1:p.Ile1454Leu
ENST00000423058.6:c.4444A>C	ENSP00000407030.2:p.Ile1482Leu
ENST00000473295.2:n.447A>C
NM_001165963.1:c.4444A>C	NP_001159435.1:p.Ile1482Leu
NM_001165964.1:c.4360A>C	NP_001159436.1:p.Ile1454Leu
NM_001202435.1:c.4444A>C	NP_001189364.1:p.Ile1482Leu
NM_006920.4:c.4411A>C , LRG_8t1:c.4411A>C	NP_008851.3:p.Ile1471Leu
NR_110598.1:n.176-17543T>G
XM_011511598.1:c.4444A>C	XP_011509900.1:p.Ile1482Leu
XM_011511599.1:c.4444A>C	XP_011509901.1:p.Ile1482Leu
XM_011511600.1:c.4444A>C	XP_011509902.1:p.Ile1482Leu
XM_011511601.1:c.4444A>C	XP_011509903.1:p.Ile1482Leu
XM_011511602.1:c.4444A>C	XP_011509904.1:p.Ile1482Leu
XM_011511603.1:c.4441A>C	XP_011509905.1:p.Ile1481Leu
XM_011511604.1:c.4411A>C	XP_011509906.1:p.Ile1471Leu
XM_011511605.1:c.4408A>C	XP_011509907.1:p.Ile1470Leu
XM_011511606.1:c.4360A>C	XP_011509908.1:p.Ile1454Leu
XM_011511607.1:c.4162A>C	XP_011509909.1:p.Ile1388Leu
NM_001165963.2:c.4444A>C	NP_001159435.1:p.Ile1482Leu
NM_001165964.2:c.4360A>C	NP_001159436.1:p.Ile1454Leu
NM_001202435.2:c.4444A>C	NP_001189364.1:p.Ile1482Leu
NM_001353948.1:c.4444A>C	NP_001340877.1:p.Ile1482Leu
NM_001353949.1:c.4411A>C	NP_001340878.1:p.Ile1471Leu
NM_001353950.1:c.4411A>C	NP_001340879.1:p.Ile1471Leu
NM_001353951.1:c.4411A>C	NP_001340880.1:p.Ile1471Leu
NM_001353952.1:c.4411A>C	NP_001340881.1:p.Ile1471Leu
NM_001353954.1:c.4408A>C	NP_001340883.1:p.Ile1470Leu
NM_001353955.1:c.4408A>C	NP_001340884.1:p.Ile1470Leu
NM_001353957.1:c.4360A>C	NP_001340886.1:p.Ile1454Leu
NM_001353958.1:c.4360A>C	NP_001340887.1:p.Ile1454Leu
NM_001353960.1:c.4357A>C	NP_001340889.1:p.Ile1453Leu
NM_001353961.1:c.2002A>C	NP_001340890.1:p.Ile668Leu
NM_006920.5:c.4411A>C	NP_008851.3:p.Ile1471Leu
NR_148667.1:n.4880A>C
XR_001738883.1:n.4894A>C
XR_001738884.1:n.4866A>C
NM_001165963.3:c.4444A>C	NP_001159435.1:p.Ile1482Leu
NM_001165964.3:c.4360A>C	NP_001159436.1:p.Ile1454Leu
NM_001202435.3:c.4444A>C	NP_001189364.1:p.Ile1482Leu
NM_001353948.2:c.4444A>C	NP_001340877.1:p.Ile1482Leu
NM_001353949.2:c.4411A>C	NP_001340878.1:p.Ile1471Leu
NM_001353950.2:c.4411A>C	NP_001340879.1:p.Ile1471Leu
NM_001353951.2:c.4411A>C	NP_001340880.1:p.Ile1471Leu
NM_001353952.2:c.4411A>C	NP_001340881.1:p.Ile1471Leu
NM_001353954.2:c.4408A>C	NP_001340883.1:p.Ile1470Leu
NM_001353955.2:c.4408A>C	NP_001340884.1:p.Ile1470Leu
NM_001353957.2:c.4360A>C	NP_001340886.1:p.Ile1454Leu
NM_001353958.2:c.4360A>C	NP_001340887.1:p.Ile1454Leu
NM_001353960.2:c.4357A>C	NP_001340889.1:p.Ile1453Leu
NM_001353961.2:c.2002A>C	NP_001340890.1:p.Ile668Leu
NM_006920.6:c.4411A>C	NP_008851.3:p.Ile1471Leu
NR_148667.2:n.4861A>C
NM_001165963.4:c.4444A>C MANE Select	NP_001159435.1:p.Ile1482Leu