Canonical Allele Identifier: CA349074609

Gene: SCN9A SCN1A-AS1

Linked Data

• gnomAD v4: 2-166272769-C-G
• MyVariant Identifiers: chr2:g.167129279C>G (hg19) ; chr2:g.166272769C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166272769C>G , CM000664.2:g.166272769C>G	GRCh38
NC_000002.11:g.167129279C>G , CM000664.1:g.167129279C>G	GRCh37
NC_000002.10:g.166837525C>G	NCBI36
NG_012798.1:g.108219G>C , LRG_369:g.108219G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2981G>C (SCN9A)	ENSP00000304748.7:p.Arg994Thr
ENST00000409435.6:c.2981G>C (SCN9A)	ENSP00000386330.2:p.Arg994Thr
ENST00000642356.2:c.2981G>C (SCN9A) MANE Select	ENSP00000495601.1:p.Arg994Thr
ENST00000644316.1:c.2948G>C (SCN9A)	ENSP00000493939.1:p.Arg983Thr
ENST00000645907.1:c.2948G>C (SCN9A)	ENSP00000495983.1:p.Arg983Thr
ENST00000667201.2:c.1877-271G>C (SCN9A)
ENST00000303354.10:c.2981G>C (SCN9A)	ENSP00000304748.7:p.Arg994Thr
ENST00000409435.5:c.2981G>C (SCN9A)	ENSP00000386330.1:p.Arg994Thr
ENST00000409672.5:c.2948G>C (SCN9A)	ENSP00000386306.1:p.Arg983Thr
NM_002977.3:c.2948G>C , LRG_369t1:c.2948G>C (SCN9A)	NP_002968.1:p.Arg983Thr
NR_110260.1:n.870-4319C>G (SCN1A-AS1)
XM_005246757.1:c.2981G>C (SCN9A)	XP_005246814.1:p.Arg994Thr
XM_011511616.1:c.2981G>C (SCN9A)	XP_011509918.1:p.Arg994Thr
XM_011511617.1:c.2981G>C (SCN9A)	XP_011509919.1:p.Arg994Thr
XM_011511618.1:c.2948G>C (SCN9A)	XP_011509920.1:p.Arg983Thr
XM_011511619.1:c.2981G>C (SCN9A)	XP_011509921.1:p.Arg994Thr
NM_001365536.1:c.2981G>C (SCN9A) MANE Select	NP_001352465.1:p.Arg994Thr
XM_011511616.3:c.2981G>C (SCN9A)	XP_011509918.1:p.Arg994Thr
XM_011511617.2:c.2981G>C (SCN9A)	XP_011509919.1:p.Arg994Thr
XM_011511618.2:c.2948G>C (SCN9A)	XP_011509920.1:p.Arg983Thr
XM_011511619.2:c.2981G>C (SCN9A)	XP_011509921.1:p.Arg994Thr
XM_017004668.1:c.2594G>C (SCN9A)	XP_016860157.1:p.Arg865Thr
XM_017004669.1:c.2237G>C (SCN9A)	XP_016860158.1:p.Arg746Thr