Canonical Allele Identifier: CA429977590

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 1151022
• ClinVar RCV Id: RCV001491783
• dbSNP Id: rs1177837472
• gnomAD v4: 2-166198771-A-T
• MyVariant Identifiers: chr2:g.167055281A>T (hg19) ; chr2:g.166198771A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166198771A>T , CM000664.2:g.166198771A>T	GRCh38
NC_000002.11:g.167055281A>T , CM000664.1:g.167055281A>T	GRCh37
NC_000002.10:g.166763527A>T	NCBI36
NG_012798.1:g.182217T>A , LRG_369:g.182217T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.5868T>A (SCN9A)	ENSP00000304748.7:p.Pro1956=
ENST00000409435.6:c.5868T>A (SCN9A)	ENSP00000386330.2:p.Pro1956=
ENST00000642356.2:c.5868T>A (SCN9A) MANE Select	ENSP00000495601.1:p.Pro1956=
ENST00000644316.1:c.5712T>A (SCN9A)	ENSP00000493939.1:p.Pro1904=
ENST00000645907.1:c.5835T>A (SCN9A)	ENSP00000495983.1:p.Pro1945=
ENST00000646694.1:n.2245T>A (SCN9A)
ENST00000303354.10:c.5868T>A (SCN9A)	ENSP00000304748.7:p.Pro1956=
ENST00000409435.5:c.5868T>A (SCN9A)	ENSP00000386330.1:p.Pro1956=
ENST00000409672.5:c.5835T>A (SCN9A)	ENSP00000386306.1:p.Pro1945=
NM_002977.3:c.5835T>A , LRG_369t1:c.5835T>A (SCN9A)	NP_002968.1:p.Pro1945=
NR_110260.1:n.432-868A>T (SCN1A-AS1)
XM_005246757.1:c.5868T>A (SCN9A)	XP_005246814.1:p.Pro1956=
XM_011511616.1:c.5868T>A (SCN9A)	XP_011509918.1:p.Pro1956=
XM_011511617.1:c.5868T>A (SCN9A)	XP_011509919.1:p.Pro1956=
XM_011511618.1:c.5835T>A (SCN9A)	XP_011509920.1:p.Pro1945=
NM_001365536.1:c.5868T>A (SCN9A) MANE Select	NP_001352465.1:p.Pro1956=
XM_011511616.3:c.5868T>A (SCN9A)	XP_011509918.1:p.Pro1956=
XM_011511617.2:c.5868T>A (SCN9A)	XP_011509919.1:p.Pro1956=
XM_011511618.2:c.5835T>A (SCN9A)	XP_011509920.1:p.Pro1945=
XM_017004668.1:c.5481T>A (SCN9A)	XP_016860157.1:p.Pro1827=
XM_017004669.1:c.5124T>A (SCN9A)	XP_016860158.1:p.Pro1708=