Canonical Allele Identifier: CA349091644

Gene: SCN9A

Linked Data

• MyVariant Identifiers: chr2:g.167159610T>A (hg19) ; chr2:g.166303100T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166303100T>A , CM000664.2:g.166303100T>A	GRCh38
NC_000002.11:g.167159610T>A , CM000664.1:g.167159610T>A	GRCh37
NC_000002.10:g.166867856T>A	NCBI36
NG_012798.1:g.77888A>T , LRG_369:g.77888A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.891A>T	ENSP00000304748.7:p.Glu297Asp
ENST00000409435.6:c.891A>T	ENSP00000386330.2:p.Glu297Asp
ENST00000452182.2:c.891A>T	ENSP00000393141.2:p.Glu297Asp
ENST00000454569.6:c.891A>T	ENSP00000413212.2:p.Glu297Asp
ENST00000472119.2:n.1246A>T
ENST00000642356.2:c.891A>T MANE Select	ENSP00000495601.1:p.Glu297Asp
ENST00000644316.1:c.891A>T	ENSP00000493939.1:p.Glu297Asp
ENST00000645815.1:n.262A>T
ENST00000645907.1:c.891A>T	ENSP00000495983.1:p.Glu297Asp
ENST00000303354.10:c.891A>T	ENSP00000304748.7:p.Glu297Asp
ENST00000409435.5:c.891A>T	ENSP00000386330.1:p.Glu297Asp
ENST00000409672.5:c.891A>T	ENSP00000386306.1:p.Glu297Asp
ENST00000452182.1:c.486A>T	ENSP00000393141.1:p.Glu162Asp
ENST00000454569.5:c.486A>T	ENSP00000413212.1:p.Glu162Asp
ENST00000472119.1:n.424A>T
NM_002977.3:c.891A>T , LRG_369t1:c.891A>T	NP_002968.1:p.Glu297Asp
XM_005246757.1:c.891A>T	XP_005246814.1:p.Glu297Asp
XM_011511616.1:c.891A>T	XP_011509918.1:p.Glu297Asp
XM_011511617.1:c.891A>T	XP_011509919.1:p.Glu297Asp
XM_011511618.1:c.891A>T	XP_011509920.1:p.Glu297Asp
XM_011511619.1:c.891A>T	XP_011509921.1:p.Glu297Asp
NM_001365536.1:c.891A>T MANE Select	NP_001352465.1:p.Glu297Asp
XM_011511616.3:c.891A>T	XP_011509918.1:p.Glu297Asp
XM_011511617.2:c.891A>T	XP_011509919.1:p.Glu297Asp
XM_011511618.2:c.891A>T	XP_011509920.1:p.Glu297Asp
XM_011511619.2:c.891A>T	XP_011509921.1:p.Glu297Asp
XM_017004668.1:c.504A>T	XP_016860157.1:p.Glu168Asp
XM_017004669.1:c.147A>T	XP_016860158.1:p.Glu49Asp
XR_001738886.1:n.1205A>T