Canonical Allele Identifier: CA1944039

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 471114
• ClinVar RCV Id: RCV001129049 ; RCV001811060 ; RCV002252165 ; RCV000778570 ; RCV001129048 ; RCV002456195
• dbSNP Id: rs759003928
• ExAC: 2:167099157 C / T
• gnomAD v2: 2-167099157-C-T
• gnomAD v3: 2-166242647-C-T
• gnomAD v4: 2-166242647-C-T
• COSMIC: COSM3313377 ; COSM3313378
• MyVariant Identifiers: chr2:g.167099157C>T (hg19) ; chr2:g.166242647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166242647C>T , CM000664.2:g.166242647C>T	GRCh38
NC_000002.11:g.167099157C>T , CM000664.1:g.167099157C>T	GRCh37
NC_000002.10:g.166807403C>T	NCBI36
NG_012798.1:g.138341G>A , LRG_369:g.138341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.3482G>A (SCN9A)	ENSP00000304748.7:p.Trp1161Ter
ENST00000409435.6:c.3482G>A (SCN9A)	ENSP00000386330.2:p.Trp1161Ter
ENST00000642356.2:c.3482G>A (SCN9A) MANE Select	ENSP00000495601.1:p.Trp1161Ter
ENST00000643319.1:c.564G>A (SCN9A)	ENSP00000494071.1:n.564G>A
ENST00000644316.1:c.3449G>A (SCN9A)	ENSP00000493939.1:p.Trp1150Ter
ENST00000645907.1:c.3449G>A (SCN9A)	ENSP00000495983.1:p.Trp1150Ter
ENST00000667201.2:c.2183G>A (SCN9A)
ENST00000303354.10:c.3482G>A (SCN9A)	ENSP00000304748.7:p.Trp1161Ter
ENST00000409435.5:c.3482G>A (SCN9A)	ENSP00000386330.1:p.Trp1161Ter
ENST00000409672.5:c.3449G>A (SCN9A)	ENSP00000386306.1:p.Trp1150Ter
NM_002977.3:c.3449G>A , LRG_369t1:c.3449G>A (SCN9A)	NP_002968.1:p.Arg1150Gln
NR_110260.1:n.612-5548C>T (SCN1A-AS1)
XM_005246757.1:c.3482G>A (SCN9A)	XP_005246814.1:p.Trp1161Ter
XM_011511616.1:c.3482G>A (SCN9A)	XP_011509918.1:p.Trp1161Ter
XM_011511617.1:c.3482G>A (SCN9A)	XP_011509919.1:p.Trp1161Ter
XM_011511618.1:c.3449G>A (SCN9A)	XP_011509920.1:p.Trp1150Ter
XM_011511619.1:c.3482G>A (SCN9A)	XP_011509921.1:p.Trp1161Ter
NM_001365536.1:c.3482G>A (SCN9A) MANE Select	NP_001352465.1:p.Trp1161Ter
XM_011511616.3:c.3482G>A (SCN9A)	XP_011509918.1:p.Trp1161Ter
XM_011511617.2:c.3482G>A (SCN9A)	XP_011509919.1:p.Trp1161Ter
XM_011511618.2:c.3449G>A (SCN9A)	XP_011509920.1:p.Trp1150Ter
XM_011511619.2:c.3482G>A (SCN9A)	XP_011509921.1:p.Trp1161Ter
XM_017004668.1:c.3095G>A (SCN9A)	XP_016860157.1:p.Trp1032Ter
XM_017004669.1:c.2738G>A (SCN9A)	XP_016860158.1:p.Trp913Ter