Canonical Allele Identifier: CA349093303

Gene: SCN9A

Linked Data

• MyVariant Identifiers: chr2:g.167159809A>T (hg19) ; chr2:g.166303299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166303299A>T , CM000664.2:g.166303299A>T	GRCh38
NC_000002.11:g.167159809A>T , CM000664.1:g.167159809A>T	GRCh37
NC_000002.10:g.166868055A>T	NCBI36
NG_012798.1:g.77689T>A , LRG_369:g.77689T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.692T>A	ENSP00000304748.7:p.Leu231Gln
ENST00000409435.6:c.692T>A	ENSP00000386330.2:p.Leu231Gln
ENST00000452182.2:c.692T>A	ENSP00000393141.2:p.Leu231Gln
ENST00000454569.6:c.692T>A	ENSP00000413212.2:p.Leu231Gln
ENST00000472119.2:n.1047T>A
ENST00000642356.2:c.692T>A MANE Select	ENSP00000495601.1:p.Leu231Gln
ENST00000644316.1:c.692T>A	ENSP00000493939.1:p.Leu231Gln
ENST00000645815.1:n.63T>A
ENST00000645907.1:c.692T>A	ENSP00000495983.1:p.Leu231Gln
ENST00000303354.10:c.692T>A	ENSP00000304748.7:p.Leu231Gln
ENST00000409435.5:c.692T>A	ENSP00000386330.1:p.Leu231Gln
ENST00000409672.5:c.692T>A	ENSP00000386306.1:p.Leu231Gln
ENST00000452182.1:c.287T>A	ENSP00000393141.1:p.Leu96Gln
ENST00000454569.5:c.287T>A	ENSP00000413212.1:p.Leu96Gln
ENST00000472119.1:n.225T>A
NM_002977.3:c.692T>A , LRG_369t1:c.692T>A	NP_002968.1:p.Leu231Gln
XM_005246757.1:c.692T>A	XP_005246814.1:p.Leu231Gln
XM_011511616.1:c.692T>A	XP_011509918.1:p.Leu231Gln
XM_011511617.1:c.692T>A	XP_011509919.1:p.Leu231Gln
XM_011511618.1:c.692T>A	XP_011509920.1:p.Leu231Gln
XM_011511619.1:c.692T>A	XP_011509921.1:p.Leu231Gln
NM_001365536.1:c.692T>A MANE Select	NP_001352465.1:p.Leu231Gln
XM_011511616.3:c.692T>A	XP_011509918.1:p.Leu231Gln
XM_011511617.2:c.692T>A	XP_011509919.1:p.Leu231Gln
XM_011511618.2:c.692T>A	XP_011509920.1:p.Leu231Gln
XM_011511619.2:c.692T>A	XP_011509921.1:p.Leu231Gln
XM_017004668.1:c.305T>A	XP_016860157.1:p.Leu102Gln
XM_017004669.1:c.-53T>A	XP_016860158.1:n.-53T>A
XR_001738886.1:n.1006T>A