Canonical Allele Identifier: CA913185013

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 6354
• ClinVar RCV Id: RCV000006726
• dbSNP Id: rs1574856736

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166280369del , CM000664.2:g.166280369del	GRCh38
NC_000002.11:g.167136879del , CM000664.1:g.167136879del	GRCh37
NC_000002.10:g.166845125del	NCBI36
NG_012798.1:g.100619del , LRG_369:g.100619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2331del (SCN9A)	ENSP00000304748.7:p.Ile778Ter
ENST00000409435.6:c.2331del (SCN9A)	ENSP00000386330.2:p.Ile778Ter
ENST00000454569.6:c.2298del (SCN9A)	ENSP00000413212.2:p.Ile767Ter
ENST00000642356.2:c.2331del (SCN9A) MANE Select	ENSP00000495601.1:p.Ile778Ter
ENST00000644316.1:c.2298del (SCN9A)	ENSP00000493939.1:p.Ile767Ter
ENST00000645907.1:c.2298del (SCN9A)	ENSP00000495983.1:p.Ile767Ter
ENST00000667201.2:c.1333del (SCN9A)
ENST00000303354.10:c.2331del (SCN9A)	ENSP00000304748.7:p.Ile778Ter
ENST00000409435.5:c.2331del (SCN9A)	ENSP00000386330.1:p.Ile778Ter
ENST00000409672.5:c.2298del (SCN9A)	ENSP00000386306.1:p.Ile767Ter
NM_002977.3:c.2298del , LRG_369t1:c.2298del (SCN9A)	NP_002968.1:p.Ile767Ter
NR_110260.1:n.1029+3122del (SCN1A-AS1)
XM_005246757.1:c.2331del (SCN9A)	XP_005246814.1:p.Ile778Ter
XM_011511616.1:c.2331del (SCN9A)	XP_011509918.1:p.Ile778Ter
XM_011511617.1:c.2331del (SCN9A)	XP_011509919.1:p.Ile778Ter
XM_011511618.1:c.2298del (SCN9A)	XP_011509920.1:p.Ile767Ter
XM_011511619.1:c.2331del (SCN9A)	XP_011509921.1:p.Ile778Ter
NM_001365536.1:c.2331del (SCN9A) MANE Select	NP_001352465.1:p.Ile778Ter
XM_011511616.3:c.2331del (SCN9A)	XP_011509918.1:p.Ile778Ter
XM_011511617.2:c.2331del (SCN9A)	XP_011509919.1:p.Ile778Ter
XM_011511618.2:c.2298del (SCN9A)	XP_011509920.1:p.Ile767Ter
XM_011511619.2:c.2331del (SCN9A)	XP_011509921.1:p.Ile778Ter
XM_017004668.1:c.1944del (SCN9A)	XP_016860157.1:p.Ile649Ter
XM_017004669.1:c.1587del (SCN9A)	XP_016860158.1:p.Ile530Ter
XR_001738886.1:n.2645del (SCN9A)