Canonical Allele Identifier: CA1943953

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 2932348
• ClinVar RCV Id: RCV003795562
• dbSNP Id: rs780686362
• ExAC: 2:167085322 CT / C
• gnomAD v2: 2-167085322-CT-C
• gnomAD v4: 2-166228812-CT-C
• MyVariant Identifiers: chr2:g.167085323del (hg19) ; chr2:g.166228813del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166228814del , CM000664.2:g.166228814del	GRCh38
NC_000002.11:g.167085324del , CM000664.1:g.167085324del	GRCh37
NC_000002.10:g.166793570del	NCBI36
NG_012798.1:g.152175del , LRG_369:g.152175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.4084del (SCN9A)	ENSP00000304748.7:p.Ser1362ValfsTer13
ENST00000409435.6:c.4084del (SCN9A)	ENSP00000386330.2:p.Ser1362ValfsTer13
ENST00000642356.2:c.4084del (SCN9A) MANE Select	ENSP00000495601.1:p.Ser1362ValfsTer13
ENST00000644316.1:c.3928del (SCN9A)	ENSP00000493939.1:p.Ser1310ValfsTer13
ENST00000645907.1:c.4051del (SCN9A)	ENSP00000495983.1:p.Ser1351ValfsTer13
ENST00000303354.10:c.4084del (SCN9A)	ENSP00000304748.7:p.Ser1362ValfsTer13
ENST00000409435.5:c.4084del (SCN9A)	ENSP00000386330.1:p.Ser1362ValfsTer13
ENST00000409672.5:c.4051del (SCN9A)	ENSP00000386306.1:p.Ser1351ValfsTer13
NM_002977.3:c.4051del , LRG_369t1:c.4051del (SCN9A)	NP_002968.1:p.Ser1351ValfsTer13
NR_110260.1:n.612-19381del (SCN1A-AS1)
XM_005246757.1:c.4084del (SCN9A)	XP_005246814.1:p.Ser1362ValfsTer13
XM_011511616.1:c.4084del (SCN9A)	XP_011509918.1:p.Ser1362ValfsTer13
XM_011511617.1:c.4084del (SCN9A)	XP_011509919.1:p.Ser1362ValfsTer13
XM_011511618.1:c.4051del (SCN9A)	XP_011509920.1:p.Ser1351ValfsTer13
XM_011511619.1:c.4084del (SCN9A)	XP_011509921.1:p.Ser1362ValfsTer13
NM_001365536.1:c.4084del (SCN9A) MANE Select	NP_001352465.1:p.Ser1362ValfsTer13
XM_011511616.3:c.4084del (SCN9A)	XP_011509918.1:p.Ser1362ValfsTer13
XM_011511617.2:c.4084del (SCN9A)	XP_011509919.1:p.Ser1362ValfsTer13
XM_011511618.2:c.4051del (SCN9A)	XP_011509920.1:p.Ser1351ValfsTer13
XM_011511619.2:c.4084del (SCN9A)	XP_011509921.1:p.Ser1362ValfsTer13
XM_017004668.1:c.3697del (SCN9A)	XP_016860157.1:p.Ser1233ValfsTer13
XM_017004669.1:c.3340del (SCN9A)	XP_016860158.1:p.Ser1114ValfsTer13