Canonical Allele Identifier: CA647597494

Gene: SCN9A

Linked Data

• gnomAD v4: 2-166304192-G-T
• COSMIC: COSN18717096

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166304192G>T , CM000664.2:g.166304192G>T	GRCh38
NC_000002.11:g.167160702G>T , CM000664.1:g.167160702G>T	GRCh37
NC_000002.10:g.166868948G>T	NCBI36
NG_012798.1:g.76796C>A , LRG_369:g.76796C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.688+46C>A	ENSP00000304748.7:n.688+46C>A
ENST00000409435.6:c.597-70C>A	ENSP00000386330.2:n.597-70C>A
ENST00000452182.2:c.688+46C>A	ENSP00000393141.2:n.688+46C>A
ENST00000454569.6:c.688+46C>A	ENSP00000413212.2:n.688+46C>A
ENST00000472119.2:n.1043+46C>A
ENST00000642356.2:c.688+46C>A MANE Select	ENSP00000495601.1:n.688+46C>A
ENST00000644316.1:c.597-70C>A	ENSP00000493939.1:n.597-70C>A
ENST00000645907.1:c.597-70C>A	ENSP00000495983.1:n.597-70C>A
ENST00000303354.10:c.688+46C>A	ENSP00000304748.7:n.688+46C>A
ENST00000409435.5:c.688+46C>A	ENSP00000386330.1:n.688+46C>A
ENST00000409672.5:c.688+46C>A	ENSP00000386306.1:n.688+46C>A
ENST00000452182.1:c.192-70C>A	ENSP00000393141.1:n.192-70C>A
ENST00000454569.5:c.192-70C>A	ENSP00000413212.1:n.192-70C>A
ENST00000472119.1:n.221+46C>A
NM_002977.3:c.688+46C>A , LRG_369t1:c.688+46C>A	NP_002968.1:n.688+46C>A
XM_005246757.1:c.688+46C>A	XP_005246814.1:n.688+46C>A
XM_011511616.1:c.688+46C>A	XP_011509918.1:n.688+46C>A
XM_011511617.1:c.597-70C>A	XP_011509919.1:n.597-70C>A
XM_011511618.1:c.597-70C>A	XP_011509920.1:n.597-70C>A
XM_011511619.1:c.688+46C>A	XP_011509921.1:n.688+46C>A
NM_001365536.1:c.688+46C>A MANE Select	NP_001352465.1:n.688+46C>A
XM_011511616.3:c.688+46C>A	XP_011509918.1:n.688+46C>A
XM_011511617.2:c.597-70C>A	XP_011509919.1:n.597-70C>A
XM_011511618.2:c.597-70C>A	XP_011509920.1:n.597-70C>A
XM_011511619.2:c.688+46C>A	XP_011509921.1:n.688+46C>A
XM_017004668.1:c.301+46C>A	XP_016860157.1:n.301+46C>A
XM_017004669.1:c.-56-890C>A	XP_016860158.1:n.-56-890C>A
XR_001738886.1:n.1002+46C>A