Canonical Allele Identifier: CA349058128

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 2104180
• ClinVar RCV Id: RCV003031253
• gnomAD v4: 2-166204367-C-A
• COSMIC: COSM4884507 ; COSM4884508
• MyVariant Identifiers: chr2:g.167060877C>A (hg19) ; chr2:g.166204367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166204367C>A , CM000664.2:g.166204367C>A	GRCh38
NC_000002.11:g.167060877C>A , CM000664.1:g.167060877C>A	GRCh37
NC_000002.10:g.166769123C>A	NCBI36
NG_012798.1:g.176621G>T , LRG_369:g.176621G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.4496G>T (SCN9A)	ENSP00000304748.7:p.Arg1499Leu
ENST00000409435.6:c.4496G>T (SCN9A)	ENSP00000386330.2:p.Arg1499Leu
ENST00000642356.2:c.4496G>T (SCN9A) MANE Select	ENSP00000495601.1:p.Arg1499Leu
ENST00000644316.1:c.4340G>T (SCN9A)	ENSP00000493939.1:p.Arg1447Leu
ENST00000645907.1:c.4463G>T (SCN9A)	ENSP00000495983.1:p.Arg1488Leu
ENST00000646694.1:n.873G>T (SCN9A)
ENST00000303354.10:c.4496G>T (SCN9A)	ENSP00000304748.7:p.Arg1499Leu
ENST00000409435.5:c.4496G>T (SCN9A)	ENSP00000386330.1:p.Arg1499Leu
ENST00000409672.5:c.4463G>T (SCN9A)	ENSP00000386306.1:p.Arg1488Leu
NM_002977.3:c.4463G>T , LRG_369t1:c.4463G>T (SCN9A)	NP_002968.1:p.Arg1488Leu
NR_110260.1:n.611+4549C>A (SCN1A-AS1)
XM_005246757.1:c.4496G>T (SCN9A)	XP_005246814.1:p.Arg1499Leu
XM_011511616.1:c.4496G>T (SCN9A)	XP_011509918.1:p.Arg1499Leu
XM_011511617.1:c.4496G>T (SCN9A)	XP_011509919.1:p.Arg1499Leu
XM_011511618.1:c.4463G>T (SCN9A)	XP_011509920.1:p.Arg1488Leu
XM_011511619.1:c.4496G>T (SCN9A)	XP_011509921.1:p.Arg1499Leu
NM_001365536.1:c.4496G>T (SCN9A) MANE Select	NP_001352465.1:p.Arg1499Leu
XM_011511616.3:c.4496G>T (SCN9A)	XP_011509918.1:p.Arg1499Leu
XM_011511617.2:c.4496G>T (SCN9A)	XP_011509919.1:p.Arg1499Leu
XM_011511618.2:c.4463G>T (SCN9A)	XP_011509920.1:p.Arg1488Leu
XM_011511619.2:c.4496G>T (SCN9A)	XP_011509921.1:p.Arg1499Leu
XM_017004668.1:c.4109G>T (SCN9A)	XP_016860157.1:p.Arg1370Leu
XM_017004669.1:c.3752G>T (SCN9A)	XP_016860158.1:p.Arg1251Leu