Canonical Allele Identifier: CA349062674

Gene: SCN1A

Linked Data

• COSMIC: COSM233310
• MyVariant Identifiers: chr2:g.166896053A>C (hg19) ; chr2:g.166039543A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166039543A>C , CM000664.2:g.166039543A>C	GRCh38
NC_000002.11:g.166896053A>C , CM000664.1:g.166896053A>C	GRCh37
NC_000002.10:g.166604299A>C	NCBI36
NG_011906.1:g.39097T>G , LRG_8:g.39097T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*505T>G	ENSP00000509637.1:n.*505T>G
ENST00000303395.9:c.2469T>G	ENSP00000303540.4:p.Asp823Glu
ENST00000635750.1:c.2436T>G	ENSP00000490799.1:p.Asp812Glu
ENST00000635776.1:c.2436T>G	ENSP00000490692.1:p.Asp812Glu
ENST00000636194.1:c.2452T>G	ENSP00000490288.1:p.Ser818Ala
ENST00000636759.1:c.*2259T>G	ENSP00000490895.1:n.*2259T>G
ENST00000637968.1:n.2721T>G
ENST00000637988.1:c.2436T>G	ENSP00000490780.1:p.Asp812Glu
ENST00000640036.1:c.2436T>G	ENSP00000491573.1:p.Asp812Glu
ENST00000641575.1:c.2433T>G	ENSP00000492917.1:p.Asp811Glu
ENST00000641603.1:c.2469T>G	ENSP00000492945.1:p.Asp823Glu
ENST00000641996.1:c.*2023T>G	ENSP00000493054.1:n.*2023T>G
ENST00000671940.1:c.*412T>G	ENSP00000500336.1:n.*412T>G
ENST00000673490.1:n.4942T>G
ENST00000674923.1:c.2469T>G MANE Select	ENSP00000501589.1:p.Asp823Glu
ENST00000303395.8:c.2469T>G	ENSP00000303540.4:p.Asp823Glu
ENST00000375405.7:c.2436T>G	ENSP00000364554.3:p.Asp812Glu
ENST00000409050.1:c.2385T>G	ENSP00000386312.1:p.Asp795Glu
ENST00000423058.6:c.2469T>G	ENSP00000407030.2:p.Asp823Glu
NM_001165963.1:c.2469T>G	NP_001159435.1:p.Asp823Glu
NM_001165964.1:c.2385T>G	NP_001159436.1:p.Asp795Glu
NM_001202435.1:c.2469T>G	NP_001189364.1:p.Asp823Glu
NM_006920.4:c.2436T>G , LRG_8t1:c.2436T>G	NP_008851.3:p.Asp812Glu
XM_011511598.1:c.2469T>G	XP_011509900.1:p.Asp823Glu
XM_011511599.1:c.2469T>G	XP_011509901.1:p.Asp823Glu
XM_011511600.1:c.2469T>G	XP_011509902.1:p.Asp823Glu
XM_011511601.1:c.2469T>G	XP_011509903.1:p.Asp823Glu
XM_011511602.1:c.2469T>G	XP_011509904.1:p.Asp823Glu
XM_011511603.1:c.2466T>G	XP_011509905.1:p.Asp822Glu
XM_011511604.1:c.2436T>G	XP_011509906.1:p.Asp812Glu
XM_011511605.1:c.2433T>G	XP_011509907.1:p.Asp811Glu
XM_011511606.1:c.2385T>G	XP_011509908.1:p.Asp795Glu
XM_011511607.1:c.2469T>G	XP_011509909.1:p.Asp823Glu
XR_922981.1:n.2653T>G
NM_001165963.2:c.2469T>G	NP_001159435.1:p.Asp823Glu
NM_001165964.2:c.2385T>G	NP_001159436.1:p.Asp795Glu
NM_001202435.2:c.2469T>G	NP_001189364.1:p.Asp823Glu
NM_001353948.1:c.2469T>G	NP_001340877.1:p.Asp823Glu
NM_001353949.1:c.2436T>G	NP_001340878.1:p.Asp812Glu
NM_001353950.1:c.2436T>G	NP_001340879.1:p.Asp812Glu
NM_001353951.1:c.2436T>G	NP_001340880.1:p.Asp812Glu
NM_001353952.1:c.2436T>G	NP_001340881.1:p.Asp812Glu
NM_001353954.1:c.2433T>G	NP_001340883.1:p.Asp811Glu
NM_001353955.1:c.2433T>G	NP_001340884.1:p.Asp811Glu
NM_001353957.1:c.2385T>G	NP_001340886.1:p.Asp795Glu
NM_001353958.1:c.2385T>G	NP_001340887.1:p.Asp795Glu
NM_001353960.1:c.2382T>G	NP_001340889.1:p.Asp794Glu
NM_001353961.1:c.27T>G	NP_001340890.1:p.Asp9Glu
NM_006920.5:c.2436T>G	NP_008851.3:p.Asp812Glu
NR_148667.1:n.2841T>G
XR_001738883.1:n.2855T>G
XR_001738884.1:n.2827T>G
NM_001165963.3:c.2469T>G	NP_001159435.1:p.Asp823Glu
NM_001165964.3:c.2385T>G	NP_001159436.1:p.Asp795Glu
NM_001202435.3:c.2469T>G	NP_001189364.1:p.Asp823Glu
NM_001353948.2:c.2469T>G	NP_001340877.1:p.Asp823Glu
NM_001353949.2:c.2436T>G	NP_001340878.1:p.Asp812Glu
NM_001353950.2:c.2436T>G	NP_001340879.1:p.Asp812Glu
NM_001353951.2:c.2436T>G	NP_001340880.1:p.Asp812Glu
NM_001353952.2:c.2436T>G	NP_001340881.1:p.Asp812Glu
NM_001353954.2:c.2433T>G	NP_001340883.1:p.Asp811Glu
NM_001353955.2:c.2433T>G	NP_001340884.1:p.Asp811Glu
NM_001353957.2:c.2385T>G	NP_001340886.1:p.Asp795Glu
NM_001353958.2:c.2385T>G	NP_001340887.1:p.Asp795Glu
NM_001353960.2:c.2382T>G	NP_001340889.1:p.Asp794Glu
NM_001353961.2:c.27T>G	NP_001340890.1:p.Asp9Glu
NM_006920.6:c.2436T>G	NP_008851.3:p.Asp812Glu
NR_148667.2:n.2822T>G
NM_001165963.4:c.2469T>G MANE Select	NP_001159435.1:p.Asp823Glu