Canonical Allele Identifier: CA349074749

Gene: SCN9A SCN1A-AS1

Linked Data

• gnomAD v4: 2-166272800-C-A
• MyVariant Identifiers: chr2:g.167129310C>A (hg19) ; chr2:g.166272800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166272800C>A , CM000664.2:g.166272800C>A	GRCh38
NC_000002.11:g.167129310C>A , CM000664.1:g.167129310C>A	GRCh37
NC_000002.10:g.166837556C>A	NCBI36
NG_012798.1:g.108188G>T , LRG_369:g.108188G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2950G>T (SCN9A)	ENSP00000304748.7:p.Asp984Tyr
ENST00000409435.6:c.2950G>T (SCN9A)	ENSP00000386330.2:p.Asp984Tyr
ENST00000642356.2:c.2950G>T (SCN9A) MANE Select	ENSP00000495601.1:p.Asp984Tyr
ENST00000644316.1:c.2917G>T (SCN9A)	ENSP00000493939.1:p.Asp973Tyr
ENST00000645907.1:c.2917G>T (SCN9A)	ENSP00000495983.1:p.Asp973Tyr
ENST00000667201.2:c.1877-302G>T (SCN9A)
ENST00000303354.10:c.2950G>T (SCN9A)	ENSP00000304748.7:p.Asp984Tyr
ENST00000409435.5:c.2950G>T (SCN9A)	ENSP00000386330.1:p.Asp984Tyr
ENST00000409672.5:c.2917G>T (SCN9A)	ENSP00000386306.1:p.Asp973Tyr
NM_002977.3:c.2917G>T , LRG_369t1:c.2917G>T (SCN9A)	NP_002968.1:p.Asp973Tyr
NR_110260.1:n.870-4288C>A (SCN1A-AS1)
XM_005246757.1:c.2950G>T (SCN9A)	XP_005246814.1:p.Asp984Tyr
XM_011511616.1:c.2950G>T (SCN9A)	XP_011509918.1:p.Asp984Tyr
XM_011511617.1:c.2950G>T (SCN9A)	XP_011509919.1:p.Asp984Tyr
XM_011511618.1:c.2917G>T (SCN9A)	XP_011509920.1:p.Asp973Tyr
XM_011511619.1:c.2950G>T (SCN9A)	XP_011509921.1:p.Asp984Tyr
NM_001365536.1:c.2950G>T (SCN9A) MANE Select	NP_001352465.1:p.Asp984Tyr
XM_011511616.3:c.2950G>T (SCN9A)	XP_011509918.1:p.Asp984Tyr
XM_011511617.2:c.2950G>T (SCN9A)	XP_011509919.1:p.Asp984Tyr
XM_011511618.2:c.2917G>T (SCN9A)	XP_011509920.1:p.Asp973Tyr
XM_011511619.2:c.2950G>T (SCN9A)	XP_011509921.1:p.Asp984Tyr
XM_017004668.1:c.2563G>T (SCN9A)	XP_016860157.1:p.Asp855Tyr
XM_017004669.1:c.2206G>T (SCN9A)	XP_016860158.1:p.Asp736Tyr
XR_001738886.1:n.3418G>T (SCN9A)