Canonical Allele Identifier: CA340557

Gene: SCN9A

Linked Data

• ClinVar Variation Id: 6365
• ClinVar RCV Id: RCV000006737
• dbSNP Id: rs80356469
• MyVariant Identifiers: chr2:g.167160789A>G (hg19) ; chr2:g.166304279A>G (hg38)
• PubMed: PMID:15955112 ; PMID:16988069 ; PMID:17101882 ; PMID:20301342

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166304279A>G , CM000664.2:g.166304279A>G	GRCh38
NC_000002.11:g.167160789A>G , CM000664.1:g.167160789A>G	GRCh37
NC_000002.10:g.166869035A>G	NCBI36
NG_012798.1:g.76709T>C , LRG_369:g.76709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.647T>C	ENSP00000304748.7:p.Phe216Ser
ENST00000409435.6:c.597-157T>C	ENSP00000386330.2:n.597-157T>C
ENST00000452182.2:c.647T>C	ENSP00000393141.2:p.Phe216Ser
ENST00000454569.6:c.647T>C	ENSP00000413212.2:p.Phe216Ser
ENST00000472119.2:n.1002T>C
ENST00000642356.2:c.647T>C MANE Select	ENSP00000495601.1:p.Phe216Ser
ENST00000644316.1:c.597-157T>C	ENSP00000493939.1:n.597-157T>C
ENST00000645907.1:c.597-157T>C	ENSP00000495983.1:n.597-157T>C
ENST00000303354.10:c.647T>C	ENSP00000304748.7:p.Phe216Ser
ENST00000409435.5:c.647T>C	ENSP00000386330.1:p.Phe216Ser
ENST00000409672.5:c.647T>C	ENSP00000386306.1:p.Phe216Ser
ENST00000452182.1:c.192-157T>C	ENSP00000393141.1:n.192-157T>C
ENST00000454569.5:c.192-157T>C	ENSP00000413212.1:n.192-157T>C
ENST00000472119.1:n.180T>C
NM_002977.3:c.647T>C , LRG_369t1:c.647T>C	NP_002968.1:p.Phe216Ser
XM_005246757.1:c.647T>C	XP_005246814.1:p.Phe216Ser
XM_011511616.1:c.647T>C	XP_011509918.1:p.Phe216Ser
XM_011511617.1:c.597-157T>C	XP_011509919.1:n.597-157T>C
XM_011511618.1:c.597-157T>C	XP_011509920.1:n.597-157T>C
XM_011511619.1:c.647T>C	XP_011509921.1:p.Phe216Ser
NM_001365536.1:c.647T>C MANE Select	NP_001352465.1:p.Phe216Ser
XM_011511616.3:c.647T>C	XP_011509918.1:p.Phe216Ser
XM_011511617.2:c.597-157T>C	XP_011509919.1:n.597-157T>C
XM_011511618.2:c.597-157T>C	XP_011509920.1:n.597-157T>C
XM_011511619.2:c.647T>C	XP_011509921.1:p.Phe216Ser
XM_017004668.1:c.260T>C	XP_016860157.1:p.Phe87Ser
XM_017004669.1:c.-56-977T>C	XP_016860158.1:n.-56-977T>C
XR_001738886.1:n.961T>C