Canonical Allele Identifier: CA1943685

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 2945232
• ClinVar RCV Id: RCV003800886
• dbSNP Id: rs770416478
• ExAC: 2:167055757 C / G
• gnomAD v2: 2-167055757-C-G
• gnomAD v4: 2-166199247-C-G
• MyVariant Identifiers: chr2:g.167055757C>G (hg19) ; chr2:g.166199247C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166199247C>G , CM000664.2:g.166199247C>G	GRCh38
NC_000002.11:g.167055757C>G , CM000664.1:g.167055757C>G	GRCh37
NC_000002.10:g.166764003C>G	NCBI36
NG_012798.1:g.181741G>C , LRG_369:g.181741G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.5392G>C (SCN9A)	ENSP00000304748.7:p.Glu1798Gln
ENST00000409435.6:c.5392G>C (SCN9A)	ENSP00000386330.2:p.Glu1798Gln
ENST00000642356.2:c.5392G>C (SCN9A) MANE Select	ENSP00000495601.1:p.Glu1798Gln
ENST00000644316.1:c.5236G>C (SCN9A)	ENSP00000493939.1:p.Glu1746Gln
ENST00000645907.1:c.5359G>C (SCN9A)	ENSP00000495983.1:p.Glu1787Gln
ENST00000646694.1:n.1769G>C (SCN9A)
ENST00000303354.10:c.5392G>C (SCN9A)	ENSP00000304748.7:p.Glu1798Gln
ENST00000409435.5:c.5392G>C (SCN9A)	ENSP00000386330.1:p.Glu1798Gln
ENST00000409672.5:c.5359G>C (SCN9A)	ENSP00000386306.1:p.Glu1787Gln
NM_002977.3:c.5359G>C , LRG_369t1:c.5359G>C (SCN9A)	NP_002968.1:p.Glu1787Gln
NR_110260.1:n.432-392C>G (SCN1A-AS1)
XM_005246757.1:c.5392G>C (SCN9A)	XP_005246814.1:p.Glu1798Gln
XM_011511616.1:c.5392G>C (SCN9A)	XP_011509918.1:p.Glu1798Gln
XM_011511617.1:c.5392G>C (SCN9A)	XP_011509919.1:p.Glu1798Gln
XM_011511618.1:c.5359G>C (SCN9A)	XP_011509920.1:p.Glu1787Gln
NM_001365536.1:c.5392G>C (SCN9A) MANE Select	NP_001352465.1:p.Glu1798Gln
XM_011511616.3:c.5392G>C (SCN9A)	XP_011509918.1:p.Glu1798Gln
XM_011511617.2:c.5392G>C (SCN9A)	XP_011509919.1:p.Glu1798Gln
XM_011511618.2:c.5359G>C (SCN9A)	XP_011509920.1:p.Glu1787Gln
XM_017004668.1:c.5005G>C (SCN9A)	XP_016860157.1:p.Glu1669Gln
XM_017004669.1:c.4648G>C (SCN9A)	XP_016860158.1:p.Glu1550Gln