Canonical Allele Identifier: CA1944661

Gene: SCN9A

Linked Data

• ClinVar Variation Id: 960350
• ClinVar RCV Id: RCV001233862 ; RCV002402731
• dbSNP Id: rs757286231
• ExAC: 2:167159728 A / C
• gnomAD v2: 2-167159728-A-C
• gnomAD v3: 2-166303218-A-C
• gnomAD v4: 2-166303218-A-C
• MyVariant Identifiers: chr2:g.167159728A>C (hg19) ; chr2:g.166303218A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166303218A>C , CM000664.2:g.166303218A>C	GRCh38
NC_000002.11:g.167159728A>C , CM000664.1:g.167159728A>C	GRCh37
NC_000002.10:g.166867974A>C	NCBI36
NG_012798.1:g.77770T>G , LRG_369:g.77770T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.773T>G	ENSP00000304748.7:p.Val258Gly
ENST00000409435.6:c.773T>G	ENSP00000386330.2:p.Val258Gly
ENST00000452182.2:c.773T>G	ENSP00000393141.2:p.Val258Gly
ENST00000454569.6:c.773T>G	ENSP00000413212.2:p.Val258Gly
ENST00000472119.2:n.1128T>G
ENST00000642356.2:c.773T>G MANE Select	ENSP00000495601.1:p.Val258Gly
ENST00000644316.1:c.773T>G	ENSP00000493939.1:p.Val258Gly
ENST00000645815.1:n.144T>G
ENST00000645907.1:c.773T>G	ENSP00000495983.1:p.Val258Gly
ENST00000303354.10:c.773T>G	ENSP00000304748.7:p.Val258Gly
ENST00000409435.5:c.773T>G	ENSP00000386330.1:p.Val258Gly
ENST00000409672.5:c.773T>G	ENSP00000386306.1:p.Val258Gly
ENST00000452182.1:c.368T>G	ENSP00000393141.1:p.Val123Gly
ENST00000454569.5:c.368T>G	ENSP00000413212.1:p.Val123Gly
ENST00000472119.1:n.306T>G
NM_002977.3:c.773T>G , LRG_369t1:c.773T>G	NP_002968.1:p.Val258Gly
XM_005246757.1:c.773T>G	XP_005246814.1:p.Val258Gly
XM_011511616.1:c.773T>G	XP_011509918.1:p.Val258Gly
XM_011511617.1:c.773T>G	XP_011509919.1:p.Val258Gly
XM_011511618.1:c.773T>G	XP_011509920.1:p.Val258Gly
XM_011511619.1:c.773T>G	XP_011509921.1:p.Val258Gly
NM_001365536.1:c.773T>G MANE Select	NP_001352465.1:p.Val258Gly
XM_011511616.3:c.773T>G	XP_011509918.1:p.Val258Gly
XM_011511617.2:c.773T>G	XP_011509919.1:p.Val258Gly
XM_011511618.2:c.773T>G	XP_011509920.1:p.Val258Gly
XM_011511619.2:c.773T>G	XP_011509921.1:p.Val258Gly
XM_017004668.1:c.386T>G	XP_016860157.1:p.Val129Gly
XM_017004669.1:c.29T>G	XP_016860158.1:p.Val10Gly
XR_001738886.1:n.1087T>G