Canonical Allele Identifier: CA2580614406

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 2501757
• ClinVar RCV Id: RCV003228179

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166276971delinsAA , CM000664.2:g.166276971delinsAA	GRCh38
NC_000002.11:g.167133481delinsAA , CM000664.1:g.167133481delinsAA	GRCh37
NC_000002.10:g.166841727delinsAA	NCBI36
NG_012798.1:g.104017delinsTT , LRG_369:g.104017delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2874+12delinsTT (SCN9A)	ENSP00000304748.7:n.2874+12delinsTT
ENST00000409435.6:c.2874+12delinsTT (SCN9A)	ENSP00000386330.2:n.2874+12delinsTT
ENST00000642356.2:c.2874+12delinsTT (SCN9A) MANE Select	ENSP00000495601.1:n.2874+12delinsTT
ENST00000644316.1:c.2841+12delinsTT (SCN9A)	ENSP00000493939.1:n.2841+12delinsTT
ENST00000645283.1:c.543delinsTT (SCN9A)	ENSP00000496086.1:p.Gln181HisfsTer7
ENST00000645907.1:c.2841+12delinsTT (SCN9A)	ENSP00000495983.1:n.2841+12delinsTT
ENST00000667201.2:c.1876+12delinsTT (SCN9A)
ENST00000303354.10:c.2874+12delinsTT (SCN9A)	ENSP00000304748.7:n.2874+12delinsTT
ENST00000409435.5:c.2874+12delinsTT (SCN9A)	ENSP00000386330.1:n.2874+12delinsTT
ENST00000409672.5:c.2841+12delinsTT (SCN9A)	ENSP00000386306.1:n.2841+12delinsTT
NM_002977.3:c.2841+12delinsTT , LRG_369t1:c.2841+12delinsTT (SCN9A)	NP_002968.1:n.2841+12delinsTT
NR_110260.1:n.870-117delinsAA (SCN1A-AS1)
XM_005246757.1:c.2874+12delinsTT (SCN9A)	XP_005246814.1:n.2874+12delinsTT
XM_011511616.1:c.2874+12delinsTT (SCN9A)	XP_011509918.1:n.2874+12delinsTT
XM_011511617.1:c.2874+12delinsTT (SCN9A)	XP_011509919.1:n.2874+12delinsTT
XM_011511618.1:c.2841+12delinsTT (SCN9A)	XP_011509920.1:n.2841+12delinsTT
XM_011511619.1:c.2874+12delinsTT (SCN9A)	XP_011509921.1:n.2874+12delinsTT
NM_001365536.1:c.2874+12delinsTT (SCN9A) MANE Select	NP_001352465.1:n.2874+12delinsTT
XM_011511616.3:c.2874+12delinsTT (SCN9A)	XP_011509918.1:n.2874+12delinsTT
XM_011511617.2:c.2874+12delinsTT (SCN9A)	XP_011509919.1:n.2874+12delinsTT
XM_011511618.2:c.2841+12delinsTT (SCN9A)	XP_011509920.1:n.2841+12delinsTT
XM_011511619.2:c.2874+12delinsTT (SCN9A)	XP_011509921.1:n.2874+12delinsTT
XM_017004668.1:c.2487+12delinsTT (SCN9A)	XP_016860157.1:n.2487+12delinsTT
XM_017004669.1:c.2130+12delinsTT (SCN9A)	XP_016860158.1:n.2130+12delinsTT
XR_001738886.1:n.3188+12delinsTT (SCN9A)