Canonical Allele Identifier: CA357867

Gene: SCN9A SCN1A-AS1

Linked Data

• PubMed: PMID:21698661

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.[166272746C>A;166277030T>G] , CM000664.2:g.[166272746C>A;166277030T>G]	GRCh38
NC_000002.11:g.[167129256C>A;167133540T>G] , CM000664.1:g.[167129256C>A;167133540T>G]	GRCh37
NC_000002.10:g.[166837502C>A;166841786T>G]	NCBI36
NG_012798.1:g.[103958A>C;108242G>T] , LRG_369:g.[103958A>C;108242G>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.[2827A>C;3004G>T] (SCN9A)	ENSP00000304748.7:p.[Met943Leu;Val1002Leu]
ENST00000409435.6:c.[2827A>C;3004G>T] (SCN9A)	ENSP00000386330.2:p.[Met943Leu;Val1002Leu]
ENST00000642356.2:c.[2827A>C;3004G>T] (SCN9A) MANE Select	ENSP00000495601.1:p.[Met943Leu;Val1002Leu]
ENST00000644316.1:c.[2794A>C;2971G>T] (SCN9A)	ENSP00000493939.1:p.[Met932Leu;Val991Leu]
ENST00000645907.1:c.[2794A>C;2971G>T] (SCN9A)	ENSP00000495983.1:p.[Met932Leu;Val991Leu]
ENST00000667201.2:c.[1829A>C;1877-248G>T] (SCN9A)
ENST00000303354.10:c.[2827A>C;3004G>T] (SCN9A)	ENSP00000304748.7:p.[Met943Leu;Val1002Leu]
ENST00000409435.5:c.[2827A>C;3004G>T] (SCN9A)	ENSP00000386330.1:p.[Met943Leu;Val1002Leu]
ENST00000409672.5:c.[2794A>C;2971G>T] (SCN9A)	ENSP00000386306.1:p.[Met932Leu;Val991Leu]
NM_002977.3:c.[2794A>C;2971G>T] , LRG_369t1:c.[2794A>C;2971G>T] (SCN9A)	NP_002968.1:p.[Met932Leu;Val991Leu]
NR_110260.1:n.[870-4342C>A;870-58T>G] (SCN1A-AS1)
XM_005246757.1:c.[2827A>C;3004G>T] (SCN9A)	XP_005246814.1:p.[Met943Leu;Val1002Leu]
XM_011511616.1:c.[2827A>C;3004G>T] (SCN9A)	XP_011509918.1:p.[Met943Leu;Val1002Leu]
XM_011511617.1:c.[2827A>C;3004G>T] (SCN9A)	XP_011509919.1:p.[Met943Leu;Val1002Leu]
XM_011511618.1:c.[2794A>C;2971G>T] (SCN9A)	XP_011509920.1:p.[Met932Leu;Val991Leu]
XM_011511619.1:c.[2827A>C;3004G>T] (SCN9A)	XP_011509921.1:p.[Met943Leu;Val1002Leu]
NM_001365536.1:c.[2827A>C;3004G>T] (SCN9A) MANE Select	NP_001352465.1:p.[Met943Leu;Val1002Leu]
XM_011511616.3:c.[2827A>C;3004G>T] (SCN9A)	XP_011509918.1:p.[Met943Leu;Val1002Leu]
XM_011511617.2:c.[2827A>C;3004G>T] (SCN9A)	XP_011509919.1:p.[Met943Leu;Val1002Leu]
XM_011511618.2:c.[2794A>C;2971G>T] (SCN9A)	XP_011509920.1:p.[Met932Leu;Val991Leu]
XM_011511619.2:c.[2827A>C;3004G>T] (SCN9A)	XP_011509921.1:p.[Met943Leu;Val1002Leu]
XM_017004668.1:c.[2440A>C;2617G>T] (SCN9A)	XP_016860157.1:p.[Met814Leu;Val873Leu]
XM_017004669.1:c.[2083A>C;2260G>T] (SCN9A)	XP_016860158.1:p.[Met695Leu;Val754Leu]