Canonical Allele Identifier: CA349079930

Gene: SCN9A SCN1A-AS1

Linked Data

• gnomAD v4: 2-166280562-C-A
• MyVariant Identifiers: chr2:g.167137072C>A (hg19) ; chr2:g.166280562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166280562C>A , CM000664.2:g.166280562C>A	GRCh38
NC_000002.11:g.167137072C>A , CM000664.1:g.167137072C>A	GRCh37
NC_000002.10:g.166845318C>A	NCBI36
NG_012798.1:g.100426G>T , LRG_369:g.100426G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.2138G>T (SCN9A)	ENSP00000304748.7:p.Trp713Leu
ENST00000409435.6:c.2138G>T (SCN9A)	ENSP00000386330.2:p.Trp713Leu
ENST00000454569.6:c.2105G>T (SCN9A)	ENSP00000413212.2:p.Trp702Leu
ENST00000642356.2:c.2138G>T (SCN9A) MANE Select	ENSP00000495601.1:p.Trp713Leu
ENST00000644316.1:c.2105G>T (SCN9A)	ENSP00000493939.1:p.Trp702Leu
ENST00000645907.1:c.2105G>T (SCN9A)	ENSP00000495983.1:p.Trp702Leu
ENST00000667201.2:c.1140G>T (SCN9A)
ENST00000303354.10:c.2138G>T (SCN9A)	ENSP00000304748.7:p.Trp713Leu
ENST00000409435.5:c.2138G>T (SCN9A)	ENSP00000386330.1:p.Trp713Leu
ENST00000409672.5:c.2105G>T (SCN9A)	ENSP00000386306.1:p.Trp702Leu
NM_002977.3:c.2105G>T , LRG_369t1:c.2105G>T (SCN9A)	NP_002968.1:p.Trp702Leu
NR_110260.1:n.1029+3315C>A (SCN1A-AS1)
XM_005246757.1:c.2138G>T (SCN9A)	XP_005246814.1:p.Trp713Leu
XM_011511616.1:c.2138G>T (SCN9A)	XP_011509918.1:p.Trp713Leu
XM_011511617.1:c.2138G>T (SCN9A)	XP_011509919.1:p.Trp713Leu
XM_011511618.1:c.2105G>T (SCN9A)	XP_011509920.1:p.Trp702Leu
XM_011511619.1:c.2138G>T (SCN9A)	XP_011509921.1:p.Trp713Leu
NM_001365536.1:c.2138G>T (SCN9A) MANE Select	NP_001352465.1:p.Trp713Leu
XM_011511616.3:c.2138G>T (SCN9A)	XP_011509918.1:p.Trp713Leu
XM_011511617.2:c.2138G>T (SCN9A)	XP_011509919.1:p.Trp713Leu
XM_011511618.2:c.2105G>T (SCN9A)	XP_011509920.1:p.Trp702Leu
XM_011511619.2:c.2138G>T (SCN9A)	XP_011509921.1:p.Trp713Leu
XM_017004668.1:c.1751G>T (SCN9A)	XP_016860157.1:p.Trp584Leu
XM_017004669.1:c.1394G>T (SCN9A)	XP_016860158.1:p.Trp465Leu
XR_001738886.1:n.2452G>T (SCN9A)