Canonical Allele Identifier: CA349058125

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 2188459
• ClinVar RCV Id: RCV002636544
• dbSNP Id: rs1292433962
• MyVariant Identifiers: chr2:g.167060874G>T (hg19) ; chr2:g.166204364G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166204364G>T , CM000664.2:g.166204364G>T	GRCh38
NC_000002.11:g.167060874G>T , CM000664.1:g.167060874G>T	GRCh37
NC_000002.10:g.166769120G>T	NCBI36
NG_012798.1:g.176624C>A , LRG_369:g.176624C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.4499C>A (SCN9A)	ENSP00000304748.7:p.Pro1500Gln
ENST00000409435.6:c.4499C>A (SCN9A)	ENSP00000386330.2:p.Pro1500Gln
ENST00000642356.2:c.4499C>A (SCN9A) MANE Select	ENSP00000495601.1:p.Pro1500Gln
ENST00000644316.1:c.4343C>A (SCN9A)	ENSP00000493939.1:p.Pro1448Gln
ENST00000645907.1:c.4466C>A (SCN9A)	ENSP00000495983.1:p.Pro1489Gln
ENST00000646694.1:n.876C>A (SCN9A)
ENST00000303354.10:c.4499C>A (SCN9A)	ENSP00000304748.7:p.Pro1500Gln
ENST00000409435.5:c.4499C>A (SCN9A)	ENSP00000386330.1:p.Pro1500Gln
ENST00000409672.5:c.4466C>A (SCN9A)	ENSP00000386306.1:p.Pro1489Gln
NM_002977.3:c.4466C>A , LRG_369t1:c.4466C>A (SCN9A)	NP_002968.1:p.Pro1489Gln
NR_110260.1:n.611+4546G>T (SCN1A-AS1)
XM_005246757.1:c.4499C>A (SCN9A)	XP_005246814.1:p.Pro1500Gln
XM_011511616.1:c.4499C>A (SCN9A)	XP_011509918.1:p.Pro1500Gln
XM_011511617.1:c.4499C>A (SCN9A)	XP_011509919.1:p.Pro1500Gln
XM_011511618.1:c.4466C>A (SCN9A)	XP_011509920.1:p.Pro1489Gln
XM_011511619.1:c.4499C>A (SCN9A)	XP_011509921.1:p.Pro1500Gln
NM_001365536.1:c.4499C>A (SCN9A) MANE Select	NP_001352465.1:p.Pro1500Gln
XM_011511616.3:c.4499C>A (SCN9A)	XP_011509918.1:p.Pro1500Gln
XM_011511617.2:c.4499C>A (SCN9A)	XP_011509919.1:p.Pro1500Gln
XM_011511618.2:c.4466C>A (SCN9A)	XP_011509920.1:p.Pro1489Gln
XM_011511619.2:c.4499C>A (SCN9A)	XP_011509921.1:p.Pro1500Gln
XM_017004668.1:c.4112C>A (SCN9A)	XP_016860157.1:p.Pro1371Gln
XM_017004669.1:c.3755C>A (SCN9A)	XP_016860158.1:p.Pro1252Gln