Canonical Allele Identifier: CA1304962856

Gene: SCN9A SCN1A-AS1

Linked Data

• dbSNP Id: rs1697059568
• gnomAD v4: 2-166272756-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166272759del , CM000664.2:g.166272759del	GRCh38
NC_000002.11:g.167129269del , CM000664.1:g.167129269del	GRCh37
NC_000002.10:g.166837515del	NCBI36
NG_012798.1:g.108231del , LRG_369:g.108231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2993del (SCN9A)	ENSP00000304748.7:p.Gly998GlufsTer2
ENST00000409435.6:c.2993del (SCN9A)	ENSP00000386330.2:p.Gly998GlufsTer2
ENST00000642356.2:c.2993del (SCN9A) MANE Select	ENSP00000495601.1:p.Gly998GlufsTer2
ENST00000644316.1:c.2960del (SCN9A)	ENSP00000493939.1:p.Gly987GlufsTer2
ENST00000645907.1:c.2960del (SCN9A)	ENSP00000495983.1:p.Gly987GlufsTer2
ENST00000667201.2:c.1877-259del (SCN9A)
ENST00000303354.10:c.2993del (SCN9A)	ENSP00000304748.7:p.Gly998GlufsTer2
ENST00000409435.5:c.2993del (SCN9A)	ENSP00000386330.1:p.Gly998GlufsTer2
ENST00000409672.5:c.2960del (SCN9A)	ENSP00000386306.1:p.Gly987GlufsTer2
NM_002977.3:c.2960del , LRG_369t1:c.2960del (SCN9A)	NP_002968.1:p.Gly987GlufsTer2
NR_110260.1:n.870-4329del (SCN1A-AS1)
XM_005246757.1:c.2993del (SCN9A)	XP_005246814.1:p.Gly998GlufsTer2
XM_011511616.1:c.2993del (SCN9A)	XP_011509918.1:p.Gly998GlufsTer2
XM_011511617.1:c.2993del (SCN9A)	XP_011509919.1:p.Gly998GlufsTer2
XM_011511618.1:c.2960del (SCN9A)	XP_011509920.1:p.Gly987GlufsTer2
XM_011511619.1:c.2993del (SCN9A)	XP_011509921.1:p.Gly998GlufsTer2
NM_001365536.1:c.2993del (SCN9A) MANE Select	NP_001352465.1:p.Gly998GlufsTer2
XM_011511616.3:c.2993del (SCN9A)	XP_011509918.1:p.Gly998GlufsTer2
XM_011511617.2:c.2993del (SCN9A)	XP_011509919.1:p.Gly998GlufsTer2
XM_011511618.2:c.2960del (SCN9A)	XP_011509920.1:p.Gly987GlufsTer2
XM_011511619.2:c.2993del (SCN9A)	XP_011509921.1:p.Gly998GlufsTer2
XM_017004668.1:c.2606del (SCN9A)	XP_016860157.1:p.Gly869GlufsTer2
XM_017004669.1:c.2249del (SCN9A)	XP_016860158.1:p.Gly750GlufsTer2