Canonical Allele Identifier: CA349066442

Gene: SCN9A SCN1A-AS1

Linked Data

• COSMIC: COSM39167
• MyVariant Identifiers: chr2:g.167089897T>C (hg19) ; chr2:g.166233387T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166233387T>C , CM000664.2:g.166233387T>C	GRCh38
NC_000002.11:g.167089897T>C , CM000664.1:g.167089897T>C	GRCh37
NC_000002.10:g.166798143T>C	NCBI36
NG_012798.1:g.147601A>G , LRG_369:g.147601A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.3877A>G (SCN9A)	ENSP00000304748.7:p.Arg1293Gly
ENST00000409435.6:c.3877A>G (SCN9A)	ENSP00000386330.2:p.Arg1293Gly
ENST00000642356.2:c.3877A>G (SCN9A) MANE Select	ENSP00000495601.1:p.Arg1293Gly
ENST00000644316.1:c.3769-4415A>G (SCN9A)	ENSP00000493939.1:n.3769-4415A>G
ENST00000645907.1:c.3844A>G (SCN9A)	ENSP00000495983.1:p.Arg1282Gly
ENST00000303354.10:c.3877A>G (SCN9A)	ENSP00000304748.7:p.Arg1293Gly
ENST00000409435.5:c.3877A>G (SCN9A)	ENSP00000386330.1:p.Arg1293Gly
ENST00000409672.5:c.3844A>G (SCN9A)	ENSP00000386306.1:p.Arg1282Gly
NM_002977.3:c.3844A>G , LRG_369t1:c.3844A>G (SCN9A)	NP_002968.1:p.Arg1282Gly
NR_110260.1:n.612-14808T>C (SCN1A-AS1)
XM_005246757.1:c.3877A>G (SCN9A)	XP_005246814.1:p.Arg1293Gly
XM_011511616.1:c.3877A>G (SCN9A)	XP_011509918.1:p.Arg1293Gly
XM_011511617.1:c.3877A>G (SCN9A)	XP_011509919.1:p.Arg1293Gly
XM_011511618.1:c.3844A>G (SCN9A)	XP_011509920.1:p.Arg1282Gly
XM_011511619.1:c.3877A>G (SCN9A)	XP_011509921.1:p.Arg1293Gly
NM_001365536.1:c.3877A>G (SCN9A) MANE Select	NP_001352465.1:p.Arg1293Gly
XM_011511616.3:c.3877A>G (SCN9A)	XP_011509918.1:p.Arg1293Gly
XM_011511617.2:c.3877A>G (SCN9A)	XP_011509919.1:p.Arg1293Gly
XM_011511618.2:c.3844A>G (SCN9A)	XP_011509920.1:p.Arg1282Gly
XM_011511619.2:c.3877A>G (SCN9A)	XP_011509921.1:p.Arg1293Gly
XM_017004668.1:c.3490A>G (SCN9A)	XP_016860157.1:p.Arg1164Gly
XM_017004669.1:c.3133A>G (SCN9A)	XP_016860158.1:p.Arg1045Gly