Canonical Allele Identifier: CA349093158

Gene: SCN9A

Linked Data

• MyVariant Identifiers: chr2:g.167159782T>C (hg19) ; chr2:g.166303272T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166303272T>C , CM000664.2:g.166303272T>C	GRCh38
NC_000002.11:g.167159782T>C , CM000664.1:g.167159782T>C	GRCh37
NC_000002.10:g.166868028T>C	NCBI36
NG_012798.1:g.77716A>G , LRG_369:g.77716A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.719A>G	ENSP00000304748.7:p.Gln240Arg
ENST00000409435.6:c.719A>G	ENSP00000386330.2:p.Gln240Arg
ENST00000452182.2:c.719A>G	ENSP00000393141.2:p.Gln240Arg
ENST00000454569.6:c.719A>G	ENSP00000413212.2:p.Gln240Arg
ENST00000472119.2:n.1074A>G
ENST00000642356.2:c.719A>G MANE Select	ENSP00000495601.1:p.Gln240Arg
ENST00000644316.1:c.719A>G	ENSP00000493939.1:p.Gln240Arg
ENST00000645815.1:n.90A>G
ENST00000645907.1:c.719A>G	ENSP00000495983.1:p.Gln240Arg
ENST00000303354.10:c.719A>G	ENSP00000304748.7:p.Gln240Arg
ENST00000409435.5:c.719A>G	ENSP00000386330.1:p.Gln240Arg
ENST00000409672.5:c.719A>G	ENSP00000386306.1:p.Gln240Arg
ENST00000452182.1:c.314A>G	ENSP00000393141.1:p.Gln105Arg
ENST00000454569.5:c.314A>G	ENSP00000413212.1:p.Gln105Arg
ENST00000472119.1:n.252A>G
NM_002977.3:c.719A>G , LRG_369t1:c.719A>G	NP_002968.1:p.Gln240Arg
XM_005246757.1:c.719A>G	XP_005246814.1:p.Gln240Arg
XM_011511616.1:c.719A>G	XP_011509918.1:p.Gln240Arg
XM_011511617.1:c.719A>G	XP_011509919.1:p.Gln240Arg
XM_011511618.1:c.719A>G	XP_011509920.1:p.Gln240Arg
XM_011511619.1:c.719A>G	XP_011509921.1:p.Gln240Arg
NM_001365536.1:c.719A>G MANE Select	NP_001352465.1:p.Gln240Arg
XM_011511616.3:c.719A>G	XP_011509918.1:p.Gln240Arg
XM_011511617.2:c.719A>G	XP_011509919.1:p.Gln240Arg
XM_011511618.2:c.719A>G	XP_011509920.1:p.Gln240Arg
XM_011511619.2:c.719A>G	XP_011509921.1:p.Gln240Arg
XM_017004668.1:c.332A>G	XP_016860157.1:p.Gln111Arg
XM_017004669.1:c.-26A>G	XP_016860158.1:n.-26A>G
XR_001738886.1:n.1033A>G