Canonical Allele Identifier: CA658683274

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 495263
• ClinVar RCV Id: RCV000585813
• dbSNP Id: rs1553544470
• MyVariant Identifiers: chr2:g.166900199_166900202del (hg19) ; chr2:g.166043689_166043692del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166043692_166043695del , CM000664.2:g.166043692_166043695del	GRCh38
NC_000002.11:g.166900202_166900205del , CM000664.1:g.166900202_166900205del	GRCh37
NC_000002.10:g.166608448_166608451del	NCBI36
NG_011906.1:g.34948_34951del , LRG_8:g.34948_34951del

Transcript Alleles

HGVS	Amino-acid change
ENST00000689288.1:c.2020_2023del	ENSP00000509637.1:p.Asp674SerfsTer8
ENST00000303395.9:c.2020_2023del	ENSP00000303540.4:p.Asp674SerfsTer15
ENST00000635750.1:c.2010+10_2010+13del	ENSP00000490799.1:n.2010+10_2010+13del
ENST00000635776.1:c.2010+10_2010+13del	ENSP00000490692.1:n.2010+10_2010+13del
ENST00000636194.1:c.2010+10_2010+13del	ENSP00000490288.1:n.2010+10_2010+13del
ENST00000636759.1:c.*1810_*1813del	ENSP00000490895.1:n.*1810_*1813del
ENST00000637968.1:n.2272_2275del
ENST00000637988.1:c.2010+10_2010+13del	ENSP00000490780.1:n.2010+10_2010+13del
ENST00000640036.1:c.2010+10_2010+13del	ENSP00000491573.1:n.2010+10_2010+13del
ENST00000641575.1:c.2007+10_2007+13del	ENSP00000492917.1:n.2007+10_2007+13del
ENST00000641603.1:c.2020_2023del	ENSP00000492945.1:p.Asp674SerfsTer15
ENST00000641996.1:c.*1574_*1577del	ENSP00000493054.1:n.*1574_*1577del
ENST00000671940.1:c.1876+144_1876+147del	ENSP00000500336.1:n.1876+144_1876+147del
ENST00000673490.1:n.4493_4496del
ENST00000674923.1:c.2020_2023del MANE Select	ENSP00000501589.1:p.Asp674SerfsTer15
ENST00000303395.8:c.2020_2023del	ENSP00000303540.4:p.Asp674SerfsTer15
ENST00000375405.7:c.2010+10_2010+13del	ENSP00000364554.3:n.2010+10_2010+13del
ENST00000409050.1:c.1959+61_1959+64del	ENSP00000386312.1:n.1959+61_1959+64del
ENST00000423058.6:c.2020_2023del	ENSP00000407030.2:p.Asp674SerfsTer15
NM_001165963.1:c.2020_2023del	NP_001159435.1:p.Asp674SerfsTer15
NM_001165964.1:c.1959+61_1959+64del	NP_001159436.1:n.1959+61_1959+64del
NM_001202435.1:c.2020_2023del	NP_001189364.1:p.Asp674SerfsTer15
NM_006920.4:c.2010+10_2010+13del , LRG_8t1:c.2010+10_2010+13del	NP_008851.3:n.2010+10_2010+13del
XM_011511598.1:c.2020_2023del	XP_011509900.1:p.Asp674SerfsTer15
XM_011511599.1:c.2020_2023del	XP_011509901.1:p.Asp674SerfsTer15
XM_011511600.1:c.2020_2023del	XP_011509902.1:p.Asp674SerfsTer15
XM_011511601.1:c.2020_2023del	XP_011509903.1:p.Asp674SerfsTer15
XM_011511602.1:c.2020_2023del	XP_011509904.1:p.Asp674SerfsTer15
XM_011511603.1:c.2017_2020del	XP_011509905.1:p.Asp673SerfsTer15
XM_011511604.1:c.2010+10_2010+13del	XP_011509906.1:n.2010+10_2010+13del
XM_011511605.1:c.2007+10_2007+13del	XP_011509907.1:n.2007+10_2007+13del
XM_011511606.1:c.1959+61_1959+64del	XP_011509908.1:n.1959+61_1959+64del
XM_011511607.1:c.2020_2023del	XP_011509909.1:p.Asp674SerfsTer15
XR_922981.1:n.2204_2207del
NM_001165963.2:c.2020_2023del	NP_001159435.1:p.Asp674SerfsTer15
NM_001165964.2:c.1959+61_1959+64del	NP_001159436.1:n.1959+61_1959+64del
NM_001202435.2:c.2020_2023del	NP_001189364.1:p.Asp674SerfsTer15
NM_001353948.1:c.2020_2023del	NP_001340877.1:p.Asp674SerfsTer15
NM_001353949.1:c.2010+10_2010+13del	NP_001340878.1:n.2010+10_2010+13del
NM_001353950.1:c.2010+10_2010+13del	NP_001340879.1:n.2010+10_2010+13del
NM_001353951.1:c.2010+10_2010+13del	NP_001340880.1:n.2010+10_2010+13del
NM_001353952.1:c.2010+10_2010+13del	NP_001340881.1:n.2010+10_2010+13del
NM_001353954.1:c.2007+10_2007+13del	NP_001340883.1:n.2007+10_2007+13del
NM_001353955.1:c.2007+10_2007+13del	NP_001340884.1:n.2007+10_2007+13del
NM_001353957.1:c.1959+61_1959+64del	NP_001340886.1:n.1959+61_1959+64del
NM_001353958.1:c.1959+61_1959+64del	NP_001340887.1:n.1959+61_1959+64del
NM_001353960.1:c.1956+61_1956+64del	NP_001340889.1:n.1956+61_1956+64del
NM_001353961.1:c.-416+10_-416+13del	NP_001340890.1:n.-416+10_-416+13del
NM_006920.5:c.2010+10_2010+13del	NP_008851.3:n.2010+10_2010+13del
NR_148667.1:n.2415+10_2415+13del
XR_001738883.1:n.2406_2409del
XR_001738884.1:n.2401+10_2401+13del
NM_001165963.3:c.2020_2023del	NP_001159435.1:p.Asp674SerfsTer15
NM_001165964.3:c.1959+61_1959+64del	NP_001159436.1:n.1959+61_1959+64del
NM_001202435.3:c.2020_2023del	NP_001189364.1:p.Asp674SerfsTer15
NM_001353948.2:c.2020_2023del	NP_001340877.1:p.Asp674SerfsTer15
NM_001353949.2:c.2010+10_2010+13del	NP_001340878.1:n.2010+10_2010+13del
NM_001353950.2:c.2010+10_2010+13del	NP_001340879.1:n.2010+10_2010+13del
NM_001353951.2:c.2010+10_2010+13del	NP_001340880.1:n.2010+10_2010+13del
NM_001353952.2:c.2010+10_2010+13del	NP_001340881.1:n.2010+10_2010+13del
NM_001353954.2:c.2007+10_2007+13del	NP_001340883.1:n.2007+10_2007+13del
NM_001353955.2:c.2007+10_2007+13del	NP_001340884.1:n.2007+10_2007+13del
NM_001353957.2:c.1959+61_1959+64del	NP_001340886.1:n.1959+61_1959+64del
NM_001353958.2:c.1959+61_1959+64del	NP_001340887.1:n.1959+61_1959+64del
NM_001353960.2:c.1956+61_1956+64del	NP_001340889.1:n.1956+61_1956+64del
NM_001353961.2:c.-416+10_-416+13del	NP_001340890.1:n.-416+10_-416+13del
NM_006920.6:c.2010+10_2010+13del	NP_008851.3:n.2010+10_2010+13del
NR_148667.2:n.2396+10_2396+13del
NM_001165963.4:c.2020_2023del MANE Select	NP_001159435.1:p.Asp674SerfsTer15