Canonical Allele Identifier: CA16044312

Gene: SCN1A

Linked Data

• ClinVar Variation Id: 375515
• ClinVar RCV Id: RCV000417022
• dbSNP Id: rs1057519533
• MyVariant Identifiers: chr2:g.166850694T>A (hg19) ; chr2:g.165994184T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.165994184T>A , CM000664.2:g.165994184T>A	GRCh38
NC_000002.11:g.166850694T>A , CM000664.1:g.166850694T>A	GRCh37
NC_000002.10:g.166558940T>A	NCBI36
NG_011906.1:g.84456A>T , LRG_8:g.84456A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000689288.1:c.*2850A>T	ENSP00000509637.1:n.*2850A>T
ENST00000303395.9:c.4814A>T	ENSP00000303540.4:p.Asn1605Ile
ENST00000635750.1:c.4781A>T	ENSP00000490799.1:p.Asn1594Ile
ENST00000635776.1:c.4781A>T	ENSP00000490692.1:p.Asn1594Ile
ENST00000636194.1:c.*2307A>T	ENSP00000490288.1:n.*2307A>T
ENST00000637038.1:c.1676A>T
ENST00000637988.1:c.4781A>T	ENSP00000490780.1:p.Asn1594Ile
ENST00000640036.1:c.4781A>T	ENSP00000491573.1:p.Asn1594Ile
ENST00000641575.1:c.4778A>T	ENSP00000492917.1:p.Asn1593Ile
ENST00000641603.1:c.4532A>T	ENSP00000492945.1:p.Asn1511Ile
ENST00000641996.1:c.*4368A>T	ENSP00000493054.1:n.*4368A>T
ENST00000671940.1:c.*2757A>T	ENSP00000500336.1:n.*2757A>T
ENST00000673490.1:n.7287A>T
ENST00000674923.1:c.4814A>T MANE Select	ENSP00000501589.1:p.Asn1605Ile
ENST00000303395.8:c.4814A>T	ENSP00000303540.4:p.Asn1605Ile
ENST00000375405.7:c.4781A>T	ENSP00000364554.3:p.Asn1594Ile
ENST00000409050.1:c.4730A>T	ENSP00000386312.1:p.Asn1577Ile
ENST00000423058.6:c.4814A>T	ENSP00000407030.2:p.Asn1605Ile
ENST00000625916.1:n.543A>T
NM_001165963.1:c.4814A>T	NP_001159435.1:p.Asn1605Ile
NM_001165964.1:c.4730A>T	NP_001159436.1:p.Asn1577Ile
NM_001202435.1:c.4814A>T	NP_001189364.1:p.Asn1605Ile
NM_006920.4:c.4781A>T , LRG_8t1:c.4781A>T	NP_008851.3:p.Asn1594Ile
NR_110598.1:n.176-21429T>A
XM_011511598.1:c.4814A>T	XP_011509900.1:p.Asn1605Ile
XM_011511599.1:c.4814A>T	XP_011509901.1:p.Asn1605Ile
XM_011511600.1:c.4814A>T	XP_011509902.1:p.Asn1605Ile
XM_011511601.1:c.4814A>T	XP_011509903.1:p.Asn1605Ile
XM_011511602.1:c.4814A>T	XP_011509904.1:p.Asn1605Ile
XM_011511603.1:c.4811A>T	XP_011509905.1:p.Asn1604Ile
XM_011511604.1:c.4781A>T	XP_011509906.1:p.Asn1594Ile
XM_011511605.1:c.4778A>T	XP_011509907.1:p.Asn1593Ile
XM_011511606.1:c.4730A>T	XP_011509908.1:p.Asn1577Ile
XM_011511607.1:c.4532A>T	XP_011509909.1:p.Asn1511Ile
NM_001165963.2:c.4814A>T	NP_001159435.1:p.Asn1605Ile
NM_001165964.2:c.4730A>T	NP_001159436.1:p.Asn1577Ile
NM_001202435.2:c.4814A>T	NP_001189364.1:p.Asn1605Ile
NM_001353948.1:c.4814A>T	NP_001340877.1:p.Asn1605Ile
NM_001353949.1:c.4781A>T	NP_001340878.1:p.Asn1594Ile
NM_001353950.1:c.4781A>T	NP_001340879.1:p.Asn1594Ile
NM_001353951.1:c.4781A>T	NP_001340880.1:p.Asn1594Ile
NM_001353952.1:c.4781A>T	NP_001340881.1:p.Asn1594Ile
NM_001353954.1:c.4778A>T	NP_001340883.1:p.Asn1593Ile
NM_001353955.1:c.4778A>T	NP_001340884.1:p.Asn1593Ile
NM_001353957.1:c.4730A>T	NP_001340886.1:p.Asn1577Ile
NM_001353958.1:c.4730A>T	NP_001340887.1:p.Asn1577Ile
NM_001353960.1:c.4727A>T	NP_001340889.1:p.Asn1576Ile
NM_001353961.1:c.2372A>T	NP_001340890.1:p.Asn791Ile
NM_006920.5:c.4781A>T	NP_008851.3:p.Asn1594Ile
NR_148667.1:n.5250A>T
XR_001738883.1:n.5264A>T
XR_001738884.1:n.5236A>T
NM_001165963.3:c.4814A>T	NP_001159435.1:p.Asn1605Ile
NM_001165964.3:c.4730A>T	NP_001159436.1:p.Asn1577Ile
NM_001202435.3:c.4814A>T	NP_001189364.1:p.Asn1605Ile
NM_001353948.2:c.4814A>T	NP_001340877.1:p.Asn1605Ile
NM_001353949.2:c.4781A>T	NP_001340878.1:p.Asn1594Ile
NM_001353950.2:c.4781A>T	NP_001340879.1:p.Asn1594Ile
NM_001353951.2:c.4781A>T	NP_001340880.1:p.Asn1594Ile
NM_001353952.2:c.4781A>T	NP_001340881.1:p.Asn1594Ile
NM_001353954.2:c.4778A>T	NP_001340883.1:p.Asn1593Ile
NM_001353955.2:c.4778A>T	NP_001340884.1:p.Asn1593Ile
NM_001353957.2:c.4730A>T	NP_001340886.1:p.Asn1577Ile
NM_001353958.2:c.4730A>T	NP_001340887.1:p.Asn1577Ile
NM_001353960.2:c.4727A>T	NP_001340889.1:p.Asn1576Ile
NM_001353961.2:c.2372A>T	NP_001340890.1:p.Asn791Ile
NM_006920.6:c.4781A>T	NP_008851.3:p.Asn1594Ile
NR_148667.2:n.5231A>T
NM_001165963.4:c.4814A>T MANE Select	NP_001159435.1:p.Asn1605Ile