Canonical Allele Identifier: CA349084673

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 2014012
• ClinVar RCV Id: RCV002861287
• gnomAD v4: 2-166286469-C-G
• MyVariant Identifiers: chr2:g.167142979C>G (hg19) ; chr2:g.166286469C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166286469C>G , CM000664.2:g.166286469C>G	GRCh38
NC_000002.11:g.167142979C>G , CM000664.1:g.167142979C>G	GRCh37
NC_000002.10:g.166851225C>G	NCBI36
NG_012798.1:g.94519G>C , LRG_369:g.94519G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.1469G>C (SCN9A)	ENSP00000304748.7:p.Ser490Thr
ENST00000409435.6:c.1469G>C (SCN9A)	ENSP00000386330.2:p.Ser490Thr
ENST00000454569.6:c.1469G>C (SCN9A)	ENSP00000413212.2:p.Ser490Thr
ENST00000642356.2:c.1469G>C (SCN9A) MANE Select	ENSP00000495601.1:p.Ser490Thr
ENST00000644316.1:c.1469G>C (SCN9A)	ENSP00000493939.1:p.Ser490Thr
ENST00000645907.1:c.1469G>C (SCN9A)	ENSP00000495983.1:p.Ser490Thr
ENST00000667201.2:c.504G>C (SCN9A)
ENST00000303354.10:c.1469G>C (SCN9A)	ENSP00000304748.7:p.Ser490Thr
ENST00000409435.5:c.1469G>C (SCN9A)	ENSP00000386330.1:p.Ser490Thr
ENST00000409672.5:c.1469G>C (SCN9A)	ENSP00000386306.1:p.Ser490Thr
ENST00000452182.1:c.1064G>C (SCN9A)	ENSP00000393141.1:p.Ser355Thr
ENST00000454569.5:c.1064G>C (SCN9A)	ENSP00000413212.1:p.Ser355Thr
NM_002977.3:c.1469G>C , LRG_369t1:c.1469G>C (SCN9A)	NP_002968.1:p.Ser490Thr
NR_110260.1:n.1030-8096C>G (SCN1A-AS1)
XM_005246757.1:c.1469G>C (SCN9A)	XP_005246814.1:p.Ser490Thr
XM_011511616.1:c.1469G>C (SCN9A)	XP_011509918.1:p.Ser490Thr
XM_011511617.1:c.1469G>C (SCN9A)	XP_011509919.1:p.Ser490Thr
XM_011511618.1:c.1469G>C (SCN9A)	XP_011509920.1:p.Ser490Thr
XM_011511619.1:c.1469G>C (SCN9A)	XP_011509921.1:p.Ser490Thr
NM_001365536.1:c.1469G>C (SCN9A) MANE Select	NP_001352465.1:p.Ser490Thr
XM_011511616.3:c.1469G>C (SCN9A)	XP_011509918.1:p.Ser490Thr
XM_011511617.2:c.1469G>C (SCN9A)	XP_011509919.1:p.Ser490Thr
XM_011511618.2:c.1469G>C (SCN9A)	XP_011509920.1:p.Ser490Thr
XM_011511619.2:c.1469G>C (SCN9A)	XP_011509921.1:p.Ser490Thr
XM_017004668.1:c.1082G>C (SCN9A)	XP_016860157.1:p.Ser361Thr
XM_017004669.1:c.725G>C (SCN9A)	XP_016860158.1:p.Ser242Thr
XR_001738886.1:n.1783G>C (SCN9A)