Canonical Allele Identifier: CA349049553

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 1739737
• ClinVar RCV Id: RCV002332074
• COSMIC: COSM717043 ; COSM1148400 ; COSM4860955
• MyVariant Identifiers: chr2:g.166856244C>G (hg19) ; chr2:g.165999734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165999734C>G , CM000664.2:g.165999734C>G	GRCh38
NC_000002.11:g.166856244C>G , CM000664.1:g.166856244C>G	GRCh37
NC_000002.10:g.166564490C>G	NCBI36
NG_011906.1:g.78906G>C , LRG_8:g.78906G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2363G>C	ENSP00000509637.1:n.*2363G>C
ENST00000303395.9:c.4327G>C	ENSP00000303540.4:p.Asp1443His
ENST00000635750.1:c.4294G>C	ENSP00000490799.1:p.Asp1432His
ENST00000635776.1:c.4294G>C	ENSP00000490692.1:p.Asp1432His
ENST00000635893.1:c.58G>C	ENSP00000489986.1:p.Asp20His
ENST00000636194.1:c.*1820G>C	ENSP00000490288.1:n.*1820G>C
ENST00000637038.1:c.1189G>C
ENST00000637988.1:c.4294G>C	ENSP00000490780.1:p.Asp1432His
ENST00000640036.1:c.4294G>C	ENSP00000491573.1:p.Asp1432His
ENST00000641575.1:c.4291G>C	ENSP00000492917.1:p.Asp1431His
ENST00000641603.1:c.4045G>C	ENSP00000492945.1:p.Asp1349His
ENST00000641996.1:c.*3881G>C	ENSP00000493054.1:n.*3881G>C
ENST00000671940.1:c.*2270G>C	ENSP00000500336.1:n.*2270G>C
ENST00000673490.1:n.6800G>C
ENST00000674923.1:c.4327G>C MANE Select	ENSP00000501589.1:p.Asp1443His
ENST00000303395.8:c.4327G>C	ENSP00000303540.4:p.Asp1443His
ENST00000375405.7:c.4294G>C	ENSP00000364554.3:p.Asp1432His
ENST00000409050.1:c.4243G>C	ENSP00000386312.1:p.Asp1415His
ENST00000423058.6:c.4327G>C	ENSP00000407030.2:p.Asp1443His
ENST00000473295.2:n.330G>C
ENST00000491429.1:n.480G>C
NM_001165963.1:c.4327G>C	NP_001159435.1:p.Asp1443His
NM_001165964.1:c.4243G>C	NP_001159436.1:p.Asp1415His
NM_001202435.1:c.4327G>C	NP_001189364.1:p.Asp1443His
NM_006920.4:c.4294G>C , LRG_8t1:c.4294G>C	NP_008851.3:p.Asp1432His
NR_110598.1:n.176-15879C>G
XM_011511598.1:c.4327G>C	XP_011509900.1:p.Asp1443His
XM_011511599.1:c.4327G>C	XP_011509901.1:p.Asp1443His
XM_011511600.1:c.4327G>C	XP_011509902.1:p.Asp1443His
XM_011511601.1:c.4327G>C	XP_011509903.1:p.Asp1443His
XM_011511602.1:c.4327G>C	XP_011509904.1:p.Asp1443His
XM_011511603.1:c.4324G>C	XP_011509905.1:p.Asp1442His
XM_011511604.1:c.4294G>C	XP_011509906.1:p.Asp1432His
XM_011511605.1:c.4291G>C	XP_011509907.1:p.Asp1431His
XM_011511606.1:c.4243G>C	XP_011509908.1:p.Asp1415His
XM_011511607.1:c.4045G>C	XP_011509909.1:p.Asp1349His
XR_922981.1:n.4575G>C
NM_001165963.2:c.4327G>C	NP_001159435.1:p.Asp1443His
NM_001165964.2:c.4243G>C	NP_001159436.1:p.Asp1415His
NM_001202435.2:c.4327G>C	NP_001189364.1:p.Asp1443His
NM_001353948.1:c.4327G>C	NP_001340877.1:p.Asp1443His
NM_001353949.1:c.4294G>C	NP_001340878.1:p.Asp1432His
NM_001353950.1:c.4294G>C	NP_001340879.1:p.Asp1432His
NM_001353951.1:c.4294G>C	NP_001340880.1:p.Asp1432His
NM_001353952.1:c.4294G>C	NP_001340881.1:p.Asp1432His
NM_001353954.1:c.4291G>C	NP_001340883.1:p.Asp1431His
NM_001353955.1:c.4291G>C	NP_001340884.1:p.Asp1431His
NM_001353957.1:c.4243G>C	NP_001340886.1:p.Asp1415His
NM_001353958.1:c.4243G>C	NP_001340887.1:p.Asp1415His
NM_001353960.1:c.4240G>C	NP_001340889.1:p.Asp1414His
NM_001353961.1:c.1885G>C	NP_001340890.1:p.Asp629His
NM_006920.5:c.4294G>C	NP_008851.3:p.Asp1432His
NR_148667.1:n.4763G>C
XR_001738883.1:n.4777G>C
XR_001738884.1:n.4749G>C
NM_001165963.3:c.4327G>C	NP_001159435.1:p.Asp1443His
NM_001165964.3:c.4243G>C	NP_001159436.1:p.Asp1415His
NM_001202435.3:c.4327G>C	NP_001189364.1:p.Asp1443His
NM_001353948.2:c.4327G>C	NP_001340877.1:p.Asp1443His
NM_001353949.2:c.4294G>C	NP_001340878.1:p.Asp1432His
NM_001353950.2:c.4294G>C	NP_001340879.1:p.Asp1432His
NM_001353951.2:c.4294G>C	NP_001340880.1:p.Asp1432His
NM_001353952.2:c.4294G>C	NP_001340881.1:p.Asp1432His
NM_001353954.2:c.4291G>C	NP_001340883.1:p.Asp1431His
NM_001353955.2:c.4291G>C	NP_001340884.1:p.Asp1431His
NM_001353957.2:c.4243G>C	NP_001340886.1:p.Asp1415His
NM_001353958.2:c.4243G>C	NP_001340887.1:p.Asp1415His
NM_001353960.2:c.4240G>C	NP_001340889.1:p.Asp1414His
NM_001353961.2:c.1885G>C	NP_001340890.1:p.Asp629His
NM_006920.6:c.4294G>C	NP_008851.3:p.Asp1432His
NR_148667.2:n.4744G>C
NM_001165963.4:c.4327G>C MANE Select	NP_001159435.1:p.Asp1443His