Canonical Allele Identifier: CA349071751

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 1731321
• ClinVar RCV Id: RCV002456991
• dbSNP Id: rs1696049423
• MyVariant Identifiers: chr2:g.167108287A>G (hg19) ; chr2:g.166251777A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166251777A>G , CM000664.2:g.166251777A>G	GRCh38
NC_000002.11:g.167108287A>G , CM000664.1:g.167108287A>G	GRCh37
NC_000002.10:g.166816533A>G	NCBI36
NG_012798.1:g.129211T>C , LRG_369:g.129211T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.3460T>C (SCN9A)	ENSP00000304748.7:p.Cys1154Arg
ENST00000409435.6:c.3460T>C (SCN9A)	ENSP00000386330.2:p.Cys1154Arg
ENST00000642356.2:c.3460T>C (SCN9A) MANE Select	ENSP00000495601.1:p.Cys1154Arg
ENST00000643319.1:c.542T>C (SCN9A)	ENSP00000494071.1:n.542T>C
ENST00000644316.1:c.3427T>C (SCN9A)	ENSP00000493939.1:p.Cys1143Arg
ENST00000645907.1:c.3427T>C (SCN9A)	ENSP00000495983.1:p.Cys1143Arg
ENST00000667201.2:c.2085T>C (SCN9A)
ENST00000303354.10:c.3460T>C (SCN9A)	ENSP00000304748.7:p.Cys1154Arg
ENST00000409435.5:c.3460T>C (SCN9A)	ENSP00000386330.1:p.Cys1154Arg
ENST00000409672.5:c.3427T>C (SCN9A)	ENSP00000386306.1:p.Cys1143Arg
NM_002977.3:c.3427T>C , LRG_369t1:c.3427T>C (SCN9A)	NP_002968.1:p.Cys1143Arg
NR_110260.1:n.736-2A>G (SCN1A-AS1)
XM_005246757.1:c.3460T>C (SCN9A)	XP_005246814.1:p.Cys1154Arg
XM_011511616.1:c.3460T>C (SCN9A)	XP_011509918.1:p.Cys1154Arg
XM_011511617.1:c.3460T>C (SCN9A)	XP_011509919.1:p.Cys1154Arg
XM_011511618.1:c.3427T>C (SCN9A)	XP_011509920.1:p.Cys1143Arg
XM_011511619.1:c.3460T>C (SCN9A)	XP_011509921.1:p.Cys1154Arg
NM_001365536.1:c.3460T>C (SCN9A) MANE Select	NP_001352465.1:p.Cys1154Arg
XM_011511616.3:c.3460T>C (SCN9A)	XP_011509918.1:p.Cys1154Arg
XM_011511617.2:c.3460T>C (SCN9A)	XP_011509919.1:p.Cys1154Arg
XM_011511618.2:c.3427T>C (SCN9A)	XP_011509920.1:p.Cys1143Arg
XM_011511619.2:c.3460T>C (SCN9A)	XP_011509921.1:p.Cys1154Arg
XM_017004668.1:c.3073T>C (SCN9A)	XP_016860157.1:p.Cys1025Arg
XM_017004669.1:c.2716T>C (SCN9A)	XP_016860158.1:p.Cys906Arg