Canonical Allele Identifier: CA349073721

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 569835
• ClinVar RCV Id: RCV000690559
• dbSNP Id: rs1558998755
• MyVariant Identifiers: chr2:g.167129129G>C (hg19) ; chr2:g.166272619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166272619G>C , CM000664.2:g.166272619G>C	GRCh38
NC_000002.11:g.167129129G>C , CM000664.1:g.167129129G>C	GRCh37
NC_000002.10:g.166837375G>C	NCBI36
NG_012798.1:g.108369C>G , LRG_369:g.108369C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.3131C>G (SCN9A)	ENSP00000304748.7:p.Ala1044Gly
ENST00000409435.6:c.3131C>G (SCN9A)	ENSP00000386330.2:p.Ala1044Gly
ENST00000642356.2:c.3131C>G (SCN9A) MANE Select	ENSP00000495601.1:p.Ala1044Gly
ENST00000643319.1:c.131C>G (SCN9A)	ENSP00000494071.1:p.Ala44Gly
ENST00000644316.1:c.3098C>G (SCN9A)	ENSP00000493939.1:p.Ala1033Gly
ENST00000645907.1:c.3098C>G (SCN9A)	ENSP00000495983.1:p.Ala1033Gly
ENST00000667201.2:c.1877-121C>G (SCN9A)
ENST00000303354.10:c.3131C>G (SCN9A)	ENSP00000304748.7:p.Ala1044Gly
ENST00000409435.5:c.3131C>G (SCN9A)	ENSP00000386330.1:p.Ala1044Gly
ENST00000409672.5:c.3098C>G (SCN9A)	ENSP00000386306.1:p.Ala1033Gly
NM_002977.3:c.3098C>G , LRG_369t1:c.3098C>G (SCN9A)	NP_002968.1:p.Ala1033Gly
NR_110260.1:n.870-4469G>C (SCN1A-AS1)
XM_005246757.1:c.3131C>G (SCN9A)	XP_005246814.1:p.Ala1044Gly
XM_011511616.1:c.3131C>G (SCN9A)	XP_011509918.1:p.Ala1044Gly
XM_011511617.1:c.3131C>G (SCN9A)	XP_011509919.1:p.Ala1044Gly
XM_011511618.1:c.3098C>G (SCN9A)	XP_011509920.1:p.Ala1033Gly
XM_011511619.1:c.3131C>G (SCN9A)	XP_011509921.1:p.Ala1044Gly
NM_001365536.1:c.3131C>G (SCN9A) MANE Select	NP_001352465.1:p.Ala1044Gly
XM_011511616.3:c.3131C>G (SCN9A)	XP_011509918.1:p.Ala1044Gly
XM_011511617.2:c.3131C>G (SCN9A)	XP_011509919.1:p.Ala1044Gly
XM_011511618.2:c.3098C>G (SCN9A)	XP_011509920.1:p.Ala1033Gly
XM_011511619.2:c.3131C>G (SCN9A)	XP_011509921.1:p.Ala1044Gly
XM_017004668.1:c.2744C>G (SCN9A)	XP_016860157.1:p.Ala915Gly
XM_017004669.1:c.2387C>G (SCN9A)	XP_016860158.1:p.Ala796Gly