Canonical Allele Identifier: CA16043379

Gene: SCN9A

Linked Data

• ClinVar Variation Id: 374103
• ClinVar RCV Id: RCV000415348 ; RCV000762064 ; RCV001366127
• dbSNP Id: rs200972952
• gnomAD v2: 2-167163461-G-A
• gnomAD v3: 2-166306951-G-A
• gnomAD v4: 2-166306951-G-A
• MyVariant Identifiers: chr2:g.167163461G>A (hg19) ; chr2:g.166306951G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166306951G>A , CM000664.2:g.166306951G>A	GRCh38
NC_000002.11:g.167163461G>A , CM000664.1:g.167163461G>A	GRCh37
NC_000002.10:g.166871707G>A	NCBI36
NG_012798.1:g.74037C>T , LRG_369:g.74037C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.377+5C>T	ENSP00000304748.7:n.377+5C>T
ENST00000409435.6:c.377+5C>T	ENSP00000386330.2:n.377+5C>T
ENST00000452182.2:c.377+5C>T	ENSP00000393141.2:n.377+5C>T
ENST00000454569.6:c.377+5C>T	ENSP00000413212.2:n.377+5C>T
ENST00000472119.2:n.732+5C>T
ENST00000642356.2:c.377+5C>T MANE Select	ENSP00000495601.1:n.377+5C>T
ENST00000644316.1:c.377+5C>T	ENSP00000493939.1:n.377+5C>T
ENST00000645907.1:c.377+5C>T	ENSP00000495983.1:n.377+5C>T
ENST00000667991.1:c.*120+198C>T	ENSP00000499663.1:n.*120+198C>T
ENST00000303354.10:c.377+5C>T	ENSP00000304748.7:n.377+5C>T
ENST00000409435.5:c.377+5C>T	ENSP00000386330.1:n.377+5C>T
ENST00000409672.5:c.377+5C>T	ENSP00000386306.1:n.377+5C>T
NM_002977.3:c.377+5C>T , LRG_369t1:c.377+5C>T	NP_002968.1:n.377+5C>T
XM_005246757.1:c.377+5C>T	XP_005246814.1:n.377+5C>T
XM_011511616.1:c.377+5C>T	XP_011509918.1:n.377+5C>T
XM_011511617.1:c.377+5C>T	XP_011509919.1:n.377+5C>T
XM_011511618.1:c.377+5C>T	XP_011509920.1:n.377+5C>T
XM_011511619.1:c.377+5C>T	XP_011509921.1:n.377+5C>T
NM_001365536.1:c.377+5C>T MANE Select	NP_001352465.1:n.377+5C>T
XM_011511616.3:c.377+5C>T	XP_011509918.1:n.377+5C>T
XM_011511617.2:c.377+5C>T	XP_011509919.1:n.377+5C>T
XM_011511618.2:c.377+5C>T	XP_011509920.1:n.377+5C>T
XM_011511619.2:c.377+5C>T	XP_011509921.1:n.377+5C>T
XM_017004668.1:c.-15+198C>T	XP_016860157.1:n.-15+198C>T
XR_001738886.1:n.691+5C>T