Canonical Allele Identifier: CA2499215220

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 1070653
• ClinVar RCV Id: RCV001382889
• dbSNP Id: rs2106461311

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166272765_166272766insG , CM000664.2:g.166272765_166272766insG	GRCh38
NC_000002.11:g.167129275_167129276insG , CM000664.1:g.167129275_167129276insG	GRCh37
NC_000002.10:g.166837521_166837522insG	NCBI36
NG_012798.1:g.108222_108223insC , LRG_369:g.108222_108223insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2984_2985insC (SCN9A)	ENSP00000304748.7:p.Lys996Ter
ENST00000409435.6:c.2984_2985insC (SCN9A)	ENSP00000386330.2:p.Lys996Ter
ENST00000642356.2:c.2984_2985insC (SCN9A) MANE Select	ENSP00000495601.1:p.Lys996Ter
ENST00000644316.1:c.2951_2952insC (SCN9A)	ENSP00000493939.1:p.Lys985Ter
ENST00000645907.1:c.2951_2952insC (SCN9A)	ENSP00000495983.1:p.Lys985Ter
ENST00000667201.2:c.1877-268_1877-267insC (SCN9A)
ENST00000303354.10:c.2984_2985insC (SCN9A)	ENSP00000304748.7:p.Lys996Ter
ENST00000409435.5:c.2984_2985insC (SCN9A)	ENSP00000386330.1:p.Lys996Ter
ENST00000409672.5:c.2951_2952insC (SCN9A)	ENSP00000386306.1:p.Lys985Ter
NM_002977.3:c.2951_2952insC , LRG_369t1:c.2951_2952insC (SCN9A)	NP_002968.1:p.Lys985Ter
NR_110260.1:n.870-4323_870-4322insG (SCN1A-AS1)
XM_005246757.1:c.2984_2985insC (SCN9A)	XP_005246814.1:p.Lys996Ter
XM_011511616.1:c.2984_2985insC (SCN9A)	XP_011509918.1:p.Lys996Ter
XM_011511617.1:c.2984_2985insC (SCN9A)	XP_011509919.1:p.Lys996Ter
XM_011511618.1:c.2951_2952insC (SCN9A)	XP_011509920.1:p.Lys985Ter
XM_011511619.1:c.2984_2985insC (SCN9A)	XP_011509921.1:p.Lys996Ter
NM_001365536.1:c.2984_2985insC (SCN9A) MANE Select	NP_001352465.1:p.Lys996Ter
XM_011511616.3:c.2984_2985insC (SCN9A)	XP_011509918.1:p.Lys996Ter
XM_011511617.2:c.2984_2985insC (SCN9A)	XP_011509919.1:p.Lys996Ter
XM_011511618.2:c.2951_2952insC (SCN9A)	XP_011509920.1:p.Lys985Ter
XM_011511619.2:c.2984_2985insC (SCN9A)	XP_011509921.1:p.Lys996Ter
XM_017004668.1:c.2597_2598insC (SCN9A)	XP_016860157.1:p.Lys867Ter
XM_017004669.1:c.2240_2241insC (SCN9A)	XP_016860158.1:p.Lys748Ter