Canonical Allele Identifier: CA349084728

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 1480482
• ClinVar RCV Id: RCV001985949
• dbSNP Id: rs1349906747
• gnomAD v2: 2-167143003-T-C
• gnomAD v4: 2-166286493-T-C
• MyVariant Identifiers: chr2:g.167143003T>C (hg19) ; chr2:g.166286493T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166286493T>C , CM000664.2:g.166286493T>C	GRCh38
NC_000002.11:g.167143003T>C , CM000664.1:g.167143003T>C	GRCh37
NC_000002.10:g.166851249T>C	NCBI36
NG_012798.1:g.94495A>G , LRG_369:g.94495A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.1445A>G (SCN9A)	ENSP00000304748.7:p.Lys482Arg
ENST00000409435.6:c.1445A>G (SCN9A)	ENSP00000386330.2:p.Lys482Arg
ENST00000454569.6:c.1445A>G (SCN9A)	ENSP00000413212.2:p.Lys482Arg
ENST00000642356.2:c.1445A>G (SCN9A) MANE Select	ENSP00000495601.1:p.Lys482Arg
ENST00000644316.1:c.1445A>G (SCN9A)	ENSP00000493939.1:p.Lys482Arg
ENST00000645907.1:c.1445A>G (SCN9A)	ENSP00000495983.1:p.Lys482Arg
ENST00000667201.2:c.480A>G (SCN9A)
ENST00000303354.10:c.1445A>G (SCN9A)	ENSP00000304748.7:p.Lys482Arg
ENST00000409435.5:c.1445A>G (SCN9A)	ENSP00000386330.1:p.Lys482Arg
ENST00000409672.5:c.1445A>G (SCN9A)	ENSP00000386306.1:p.Lys482Arg
ENST00000452182.1:c.1040A>G (SCN9A)	ENSP00000393141.1:p.Lys347Arg
ENST00000454569.5:c.1040A>G (SCN9A)	ENSP00000413212.1:p.Lys347Arg
NM_002977.3:c.1445A>G , LRG_369t1:c.1445A>G (SCN9A)	NP_002968.1:p.Lys482Arg
NR_110260.1:n.1030-8072T>C (SCN1A-AS1)
XM_005246757.1:c.1445A>G (SCN9A)	XP_005246814.1:p.Lys482Arg
XM_011511616.1:c.1445A>G (SCN9A)	XP_011509918.1:p.Lys482Arg
XM_011511617.1:c.1445A>G (SCN9A)	XP_011509919.1:p.Lys482Arg
XM_011511618.1:c.1445A>G (SCN9A)	XP_011509920.1:p.Lys482Arg
XM_011511619.1:c.1445A>G (SCN9A)	XP_011509921.1:p.Lys482Arg
NM_001365536.1:c.1445A>G (SCN9A) MANE Select	NP_001352465.1:p.Lys482Arg
XM_011511616.3:c.1445A>G (SCN9A)	XP_011509918.1:p.Lys482Arg
XM_011511617.2:c.1445A>G (SCN9A)	XP_011509919.1:p.Lys482Arg
XM_011511618.2:c.1445A>G (SCN9A)	XP_011509920.1:p.Lys482Arg
XM_011511619.2:c.1445A>G (SCN9A)	XP_011509921.1:p.Lys482Arg
XM_017004668.1:c.1058A>G (SCN9A)	XP_016860157.1:p.Lys353Arg
XM_017004669.1:c.701A>G (SCN9A)	XP_016860158.1:p.Lys234Arg
XR_001738886.1:n.1759A>G (SCN9A)