Canonical Allele Identifier: CA349093187

Gene: SCN9A

Linked Data

• ClinVar Variation Id: 1444522
• ClinVar RCV Id: RCV001982457
• dbSNP Id: rs1259872053
• gnomAD v2: 2-167159787-C-A
• gnomAD v3: 2-166303277-C-A
• gnomAD v4: 2-166303277-C-A
• MyVariant Identifiers: chr2:g.167159787C>A (hg19) ; chr2:g.166303277C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166303277C>A , CM000664.2:g.166303277C>A	GRCh38
NC_000002.11:g.167159787C>A , CM000664.1:g.167159787C>A	GRCh37
NC_000002.10:g.166868033C>A	NCBI36
NG_012798.1:g.77711G>T , LRG_369:g.77711G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.714G>T	ENSP00000304748.7:p.Leu238Phe
ENST00000409435.6:c.714G>T	ENSP00000386330.2:p.Leu238Phe
ENST00000452182.2:c.714G>T	ENSP00000393141.2:p.Leu238Phe
ENST00000454569.6:c.714G>T	ENSP00000413212.2:p.Leu238Phe
ENST00000472119.2:n.1069G>T
ENST00000642356.2:c.714G>T MANE Select	ENSP00000495601.1:p.Leu238Phe
ENST00000644316.1:c.714G>T	ENSP00000493939.1:p.Leu238Phe
ENST00000645815.1:n.85G>T
ENST00000645907.1:c.714G>T	ENSP00000495983.1:p.Leu238Phe
ENST00000303354.10:c.714G>T	ENSP00000304748.7:p.Leu238Phe
ENST00000409435.5:c.714G>T	ENSP00000386330.1:p.Leu238Phe
ENST00000409672.5:c.714G>T	ENSP00000386306.1:p.Leu238Phe
ENST00000452182.1:c.309G>T	ENSP00000393141.1:p.Leu103Phe
ENST00000454569.5:c.309G>T	ENSP00000413212.1:p.Leu103Phe
ENST00000472119.1:n.247G>T
NM_002977.3:c.714G>T , LRG_369t1:c.714G>T	NP_002968.1:p.Leu238Phe
XM_005246757.1:c.714G>T	XP_005246814.1:p.Leu238Phe
XM_011511616.1:c.714G>T	XP_011509918.1:p.Leu238Phe
XM_011511617.1:c.714G>T	XP_011509919.1:p.Leu238Phe
XM_011511618.1:c.714G>T	XP_011509920.1:p.Leu238Phe
XM_011511619.1:c.714G>T	XP_011509921.1:p.Leu238Phe
NM_001365536.1:c.714G>T MANE Select	NP_001352465.1:p.Leu238Phe
XM_011511616.3:c.714G>T	XP_011509918.1:p.Leu238Phe
XM_011511617.2:c.714G>T	XP_011509919.1:p.Leu238Phe
XM_011511618.2:c.714G>T	XP_011509920.1:p.Leu238Phe
XM_011511619.2:c.714G>T	XP_011509921.1:p.Leu238Phe
XM_017004668.1:c.327G>T	XP_016860157.1:p.Leu109Phe
XM_017004669.1:c.-31G>T	XP_016860158.1:n.-31G>T
XR_001738886.1:n.1028G>T