Canonical Allele Identifier: CA349063175

Gene: SCN9A SCN1A-AS1

Linked Data

• COSMIC: COSM3837260 ; COSM3837261
• MyVariant Identifiers: chr2:g.167085206G>C (hg19) ; chr2:g.166228696G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166228696G>C , CM000664.2:g.166228696G>C	GRCh38
NC_000002.11:g.167085206G>C , CM000664.1:g.167085206G>C	GRCh37
NC_000002.10:g.166793452G>C	NCBI36
NG_012798.1:g.152292C>G , LRG_369:g.152292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.4201C>G (SCN9A)	ENSP00000304748.7:p.Gln1401Glu
ENST00000409435.6:c.4201C>G (SCN9A)	ENSP00000386330.2:p.Gln1401Glu
ENST00000642356.2:c.4201C>G (SCN9A) MANE Select	ENSP00000495601.1:p.Gln1401Glu
ENST00000644316.1:c.4045C>G (SCN9A)	ENSP00000493939.1:p.Gln1349Glu
ENST00000645907.1:c.4168C>G (SCN9A)	ENSP00000495983.1:p.Gln1390Glu
ENST00000303354.10:c.4201C>G (SCN9A)	ENSP00000304748.7:p.Gln1401Glu
ENST00000409435.5:c.4201C>G (SCN9A)	ENSP00000386330.1:p.Gln1401Glu
ENST00000409672.5:c.4168C>G (SCN9A)	ENSP00000386306.1:p.Gln1390Glu
NM_002977.3:c.4168C>G , LRG_369t1:c.4168C>G (SCN9A)	NP_002968.1:p.Gln1390Glu
NR_110260.1:n.612-19499G>C (SCN1A-AS1)
XM_005246757.1:c.4201C>G (SCN9A)	XP_005246814.1:p.Gln1401Glu
XM_011511616.1:c.4201C>G (SCN9A)	XP_011509918.1:p.Gln1401Glu
XM_011511617.1:c.4201C>G (SCN9A)	XP_011509919.1:p.Gln1401Glu
XM_011511618.1:c.4168C>G (SCN9A)	XP_011509920.1:p.Gln1390Glu
XM_011511619.1:c.4201C>G (SCN9A)	XP_011509921.1:p.Gln1401Glu
NM_001365536.1:c.4201C>G (SCN9A) MANE Select	NP_001352465.1:p.Gln1401Glu
XM_011511616.3:c.4201C>G (SCN9A)	XP_011509918.1:p.Gln1401Glu
XM_011511617.2:c.4201C>G (SCN9A)	XP_011509919.1:p.Gln1401Glu
XM_011511618.2:c.4168C>G (SCN9A)	XP_011509920.1:p.Gln1390Glu
XM_011511619.2:c.4201C>G (SCN9A)	XP_011509921.1:p.Gln1401Glu
XM_017004668.1:c.3814C>G (SCN9A)	XP_016860157.1:p.Gln1272Glu
XM_017004669.1:c.3457C>G (SCN9A)	XP_016860158.1:p.Gln1153Glu