Canonical Allele Identifier: CA349092959

Gene: SCN9A

Linked Data

• ClinVar Variation Id: 2950147
• ClinVar RCV Id: RCV003807505
• gnomAD v4: 2-166303234-C-T
• MyVariant Identifiers: chr2:g.167159744C>T (hg19) ; chr2:g.166303234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166303234C>T , CM000664.2:g.166303234C>T	GRCh38
NC_000002.11:g.167159744C>T , CM000664.1:g.167159744C>T	GRCh37
NC_000002.10:g.166867990C>T	NCBI36
NG_012798.1:g.77754G>A , LRG_369:g.77754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.757G>A	ENSP00000304748.7:p.Val253Met
ENST00000409435.6:c.757G>A	ENSP00000386330.2:p.Val253Met
ENST00000452182.2:c.757G>A	ENSP00000393141.2:p.Val253Met
ENST00000454569.6:c.757G>A	ENSP00000413212.2:p.Val253Met
ENST00000472119.2:n.1112G>A
ENST00000642356.2:c.757G>A MANE Select	ENSP00000495601.1:p.Val253Met
ENST00000644316.1:c.757G>A	ENSP00000493939.1:p.Val253Met
ENST00000645815.1:n.128G>A
ENST00000645907.1:c.757G>A	ENSP00000495983.1:p.Val253Met
ENST00000303354.10:c.757G>A	ENSP00000304748.7:p.Val253Met
ENST00000409435.5:c.757G>A	ENSP00000386330.1:p.Val253Met
ENST00000409672.5:c.757G>A	ENSP00000386306.1:p.Val253Met
ENST00000452182.1:c.352G>A	ENSP00000393141.1:p.Val118Met
ENST00000454569.5:c.352G>A	ENSP00000413212.1:p.Val118Met
ENST00000472119.1:n.290G>A
NM_002977.3:c.757G>A , LRG_369t1:c.757G>A	NP_002968.1:p.Val253Met
XM_005246757.1:c.757G>A	XP_005246814.1:p.Val253Met
XM_011511616.1:c.757G>A	XP_011509918.1:p.Val253Met
XM_011511617.1:c.757G>A	XP_011509919.1:p.Val253Met
XM_011511618.1:c.757G>A	XP_011509920.1:p.Val253Met
XM_011511619.1:c.757G>A	XP_011509921.1:p.Val253Met
NM_001365536.1:c.757G>A MANE Select	NP_001352465.1:p.Val253Met
XM_011511616.3:c.757G>A	XP_011509918.1:p.Val253Met
XM_011511617.2:c.757G>A	XP_011509919.1:p.Val253Met
XM_011511618.2:c.757G>A	XP_011509920.1:p.Val253Met
XM_011511619.2:c.757G>A	XP_011509921.1:p.Val253Met
XM_017004668.1:c.370G>A	XP_016860157.1:p.Val124Met
XM_017004669.1:c.13G>A	XP_016860158.1:p.Val5Met
XR_001738886.1:n.1071G>A