Canonical Allele Identifier: CA340551

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 6352
• ClinVar RCV Id: RCV000006724
• dbSNP Id: rs80356478
• MyVariant Identifiers: chr2:g.167083097A>C (hg19) ; chr2:g.166226587A>C (hg38)
• PubMed: PMID:1536168 ; PMID:15958509 ; PMID:20301342

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166226587A>C , CM000664.2:g.166226587A>C	GRCh38
NC_000002.11:g.167083097A>C , CM000664.1:g.167083097A>C	GRCh37
NC_000002.10:g.166791343A>C	NCBI36
NG_012798.1:g.154401T>G , LRG_369:g.154401T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.4378T>G (SCN9A)	ENSP00000304748.7:p.Phe1460Val
ENST00000409435.6:c.4378T>G (SCN9A)	ENSP00000386330.2:p.Phe1460Val
ENST00000642356.2:c.4378T>G (SCN9A) MANE Select	ENSP00000495601.1:p.Phe1460Val
ENST00000644316.1:c.4222T>G (SCN9A)	ENSP00000493939.1:p.Phe1408Val
ENST00000645907.1:c.4345T>G (SCN9A)	ENSP00000495983.1:p.Phe1449Val
ENST00000303354.10:c.4378T>G (SCN9A)	ENSP00000304748.7:p.Phe1460Val
ENST00000409435.5:c.4378T>G (SCN9A)	ENSP00000386330.1:p.Phe1460Val
ENST00000409672.5:c.4345T>G (SCN9A)	ENSP00000386306.1:p.Phe1449Val
NM_002977.3:c.4345T>G , LRG_369t1:c.4345T>G (SCN9A)	NP_002968.1:p.Phe1449Val
NR_110260.1:n.612-21608A>C (SCN1A-AS1)
XM_005246757.1:c.4378T>G (SCN9A)	XP_005246814.1:p.Phe1460Val
XM_011511616.1:c.4378T>G (SCN9A)	XP_011509918.1:p.Phe1460Val
XM_011511617.1:c.4378T>G (SCN9A)	XP_011509919.1:p.Phe1460Val
XM_011511618.1:c.4345T>G (SCN9A)	XP_011509920.1:p.Phe1449Val
XM_011511619.1:c.4378T>G (SCN9A)	XP_011509921.1:p.Phe1460Val
NM_001365536.1:c.4378T>G (SCN9A) MANE Select	NP_001352465.1:p.Phe1460Val
XM_011511616.3:c.4378T>G (SCN9A)	XP_011509918.1:p.Phe1460Val
XM_011511617.2:c.4378T>G (SCN9A)	XP_011509919.1:p.Phe1460Val
XM_011511618.2:c.4345T>G (SCN9A)	XP_011509920.1:p.Phe1449Val
XM_011511619.2:c.4378T>G (SCN9A)	XP_011509921.1:p.Phe1460Val
XM_017004668.1:c.3991T>G (SCN9A)	XP_016860157.1:p.Phe1331Val
XM_017004669.1:c.3634T>G (SCN9A)	XP_016860158.1:p.Phe1212Val