Canonical Allele Identifier: CA349092999

Gene: SCN9A

Linked Data

• MyVariant Identifiers: chr2:g.167159754C>G (hg19) ; chr2:g.166303244C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166303244C>G , CM000664.2:g.166303244C>G	GRCh38
NC_000002.11:g.167159754C>G , CM000664.1:g.167159754C>G	GRCh37
NC_000002.10:g.166868000C>G	NCBI36
NG_012798.1:g.77744G>C , LRG_369:g.77744G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.747G>C	ENSP00000304748.7:p.Met249Ile
ENST00000409435.6:c.747G>C	ENSP00000386330.2:p.Met249Ile
ENST00000452182.2:c.747G>C	ENSP00000393141.2:p.Met249Ile
ENST00000454569.6:c.747G>C	ENSP00000413212.2:p.Met249Ile
ENST00000472119.2:n.1102G>C
ENST00000642356.2:c.747G>C MANE Select	ENSP00000495601.1:p.Met249Ile
ENST00000644316.1:c.747G>C	ENSP00000493939.1:p.Met249Ile
ENST00000645815.1:n.118G>C
ENST00000645907.1:c.747G>C	ENSP00000495983.1:p.Met249Ile
ENST00000303354.10:c.747G>C	ENSP00000304748.7:p.Met249Ile
ENST00000409435.5:c.747G>C	ENSP00000386330.1:p.Met249Ile
ENST00000409672.5:c.747G>C	ENSP00000386306.1:p.Met249Ile
ENST00000452182.1:c.342G>C	ENSP00000393141.1:p.Met114Ile
ENST00000454569.5:c.342G>C	ENSP00000413212.1:p.Met114Ile
ENST00000472119.1:n.280G>C
NM_002977.3:c.747G>C , LRG_369t1:c.747G>C	NP_002968.1:p.Met249Ile
XM_005246757.1:c.747G>C	XP_005246814.1:p.Met249Ile
XM_011511616.1:c.747G>C	XP_011509918.1:p.Met249Ile
XM_011511617.1:c.747G>C	XP_011509919.1:p.Met249Ile
XM_011511618.1:c.747G>C	XP_011509920.1:p.Met249Ile
XM_011511619.1:c.747G>C	XP_011509921.1:p.Met249Ile
NM_001365536.1:c.747G>C MANE Select	NP_001352465.1:p.Met249Ile
XM_011511616.3:c.747G>C	XP_011509918.1:p.Met249Ile
XM_011511617.2:c.747G>C	XP_011509919.1:p.Met249Ile
XM_011511618.2:c.747G>C	XP_011509920.1:p.Met249Ile
XM_011511619.2:c.747G>C	XP_011509921.1:p.Met249Ile
XM_017004668.1:c.360G>C	XP_016860157.1:p.Met120Ile
XM_017004669.1:c.3G>C	XP_016860158.1:p.Met1Ile
XR_001738886.1:n.1061G>C