Canonical Allele Identifier: CA1944626

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 331997
• ClinVar RCV Id: RCV000280489 ; RCV000317791 ; RCV000349425 ; RCV000436811 ; RCV000385347 ; RCV002057588
• dbSNP Id: rs772337722
• ExAC: 2:167151096 A / G
• gnomAD v2: 2-167151096-A-G
• gnomAD v3: 2-166294586-A-G
• gnomAD v4: 2-166294586-A-G
• MyVariant Identifiers: chr2:g.167151096A>G (hg19) ; chr2:g.166294586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166294586A>G , CM000664.2:g.166294586A>G	GRCh38
NC_000002.11:g.167151096A>G , CM000664.1:g.167151096A>G	GRCh37
NC_000002.10:g.166859342A>G	NCBI36
NG_012798.1:g.86402T>C , LRG_369:g.86402T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.965+13T>C (SCN9A)	ENSP00000304748.7:n.965+13T>C
ENST00000409435.6:c.965+13T>C (SCN9A)	ENSP00000386330.2:n.965+13T>C
ENST00000452182.2:c.965+13T>C (SCN9A)	ENSP00000393141.2:n.965+13T>C
ENST00000454569.6:c.965+13T>C (SCN9A)	ENSP00000413212.2:n.965+13T>C
ENST00000642356.2:c.965+13T>C (SCN9A) MANE Select	ENSP00000495601.1:n.965+13T>C
ENST00000644316.1:c.965+13T>C (SCN9A)	ENSP00000493939.1:n.965+13T>C
ENST00000645907.1:c.965+13T>C (SCN9A)	ENSP00000495983.1:n.965+13T>C
ENST00000303354.10:c.965+13T>C (SCN9A)	ENSP00000304748.7:n.965+13T>C
ENST00000409435.5:c.965+13T>C (SCN9A)	ENSP00000386330.1:n.965+13T>C
ENST00000409672.5:c.965+13T>C (SCN9A)	ENSP00000386306.1:n.965+13T>C
ENST00000452182.1:c.560+13T>C (SCN9A)	ENSP00000393141.1:n.560+13T>C
ENST00000454569.5:c.560+13T>C (SCN9A)	ENSP00000413212.1:n.560+13T>C
NM_002977.3:c.965+13T>C , LRG_369t1:c.965+13T>C (SCN9A)	NP_002968.1:n.965+13T>C
NR_110260.1:n.1051A>G (SCN1A-AS1)
XM_005246757.1:c.965+13T>C (SCN9A)	XP_005246814.1:n.965+13T>C
XM_011511616.1:c.965+13T>C (SCN9A)	XP_011509918.1:n.965+13T>C
XM_011511617.1:c.965+13T>C (SCN9A)	XP_011509919.1:n.965+13T>C
XM_011511618.1:c.965+13T>C (SCN9A)	XP_011509920.1:n.965+13T>C
XM_011511619.1:c.965+13T>C (SCN9A)	XP_011509921.1:n.965+13T>C
NM_001365536.1:c.965+13T>C (SCN9A) MANE Select	NP_001352465.1:n.965+13T>C
XM_011511616.3:c.965+13T>C (SCN9A)	XP_011509918.1:n.965+13T>C
XM_011511617.2:c.965+13T>C (SCN9A)	XP_011509919.1:n.965+13T>C
XM_011511618.2:c.965+13T>C (SCN9A)	XP_011509920.1:n.965+13T>C
XM_011511619.2:c.965+13T>C (SCN9A)	XP_011509921.1:n.965+13T>C
XM_017004668.1:c.578+13T>C (SCN9A)	XP_016860157.1:n.578+13T>C
XM_017004669.1:c.221+13T>C (SCN9A)	XP_016860158.1:n.221+13T>C
XR_001738886.1:n.1279+13T>C (SCN9A)