Canonical Allele Identifier: CA59808840

Gene: SCN9A

Linked Data

• dbSNP Id: rs71428908
• COSMIC: COSM3569255
• MyVariant Identifiers: chr2:g.167160752G>A (hg19) ; chr2:g.166304242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166304242G>A , CM000664.2:g.166304242G>A	GRCh38
NC_000002.11:g.167160752G>A , CM000664.1:g.167160752G>A	GRCh37
NC_000002.10:g.166868998G>A	NCBI36
NG_012798.1:g.76746C>T , LRG_369:g.76746C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.684C>T	ENSP00000304748.7:p.Ile228=
ENST00000409435.6:c.597-120C>T	ENSP00000386330.2:n.597-120C>T
ENST00000452182.2:c.684C>T	ENSP00000393141.2:p.Ile228=
ENST00000454569.6:c.684C>T	ENSP00000413212.2:p.Ile228=
ENST00000472119.2:n.1039C>T
ENST00000642356.2:c.684C>T MANE Select	ENSP00000495601.1:p.Ile228=
ENST00000644316.1:c.597-120C>T	ENSP00000493939.1:n.597-120C>T
ENST00000645907.1:c.597-120C>T	ENSP00000495983.1:n.597-120C>T
ENST00000303354.10:c.684C>T	ENSP00000304748.7:p.Ile228=
ENST00000409435.5:c.684C>T	ENSP00000386330.1:p.Ile228=
ENST00000409672.5:c.684C>T	ENSP00000386306.1:p.Ile228=
ENST00000452182.1:c.192-120C>T	ENSP00000393141.1:n.192-120C>T
ENST00000454569.5:c.192-120C>T	ENSP00000413212.1:n.192-120C>T
ENST00000472119.1:n.217C>T
NM_002977.3:c.684C>T , LRG_369t1:c.684C>T	NP_002968.1:p.Ile228=
XM_005246757.1:c.684C>T	XP_005246814.1:p.Ile228=
XM_011511616.1:c.684C>T	XP_011509918.1:p.Ile228=
XM_011511617.1:c.597-120C>T	XP_011509919.1:n.597-120C>T
XM_011511618.1:c.597-120C>T	XP_011509920.1:n.597-120C>T
XM_011511619.1:c.684C>T	XP_011509921.1:p.Ile228=
NM_001365536.1:c.684C>T MANE Select	NP_001352465.1:p.Ile228=
XM_011511616.3:c.684C>T	XP_011509918.1:p.Ile228=
XM_011511617.2:c.597-120C>T	XP_011509919.1:n.597-120C>T
XM_011511618.2:c.597-120C>T	XP_011509920.1:n.597-120C>T
XM_011511619.2:c.684C>T	XP_011509921.1:p.Ile228=
XM_017004668.1:c.297C>T	XP_016860157.1:p.Ile99=
XM_017004669.1:c.-56-940C>T	XP_016860158.1:n.-56-940C>T
XR_001738886.1:n.998C>T