Canonical Allele Identifier: CA349066421

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 966439
• ClinVar RCV Id: RCV001241115
• dbSNP Id: rs1295607627
• gnomAD v2: 2-167089890-A-G
• gnomAD v3: 2-166233380-A-G
• gnomAD v4: 2-166233380-A-G
• MyVariant Identifiers: chr2:g.167089890A>G (hg19) ; chr2:g.166233380A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166233380A>G , CM000664.2:g.166233380A>G	GRCh38
NC_000002.11:g.167089890A>G , CM000664.1:g.167089890A>G	GRCh37
NC_000002.10:g.166798136A>G	NCBI36
NG_012798.1:g.147608T>C , LRG_369:g.147608T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.3884T>C (SCN9A)	ENSP00000304748.7:p.Leu1295Ser
ENST00000409435.6:c.3884T>C (SCN9A)	ENSP00000386330.2:p.Leu1295Ser
ENST00000642356.2:c.3884T>C (SCN9A) MANE Select	ENSP00000495601.1:p.Leu1295Ser
ENST00000644316.1:c.3769-4408T>C (SCN9A)	ENSP00000493939.1:n.3769-4408T>C
ENST00000645907.1:c.3851T>C (SCN9A)	ENSP00000495983.1:p.Leu1284Ser
ENST00000303354.10:c.3884T>C (SCN9A)	ENSP00000304748.7:p.Leu1295Ser
ENST00000409435.5:c.3884T>C (SCN9A)	ENSP00000386330.1:p.Leu1295Ser
ENST00000409672.5:c.3851T>C (SCN9A)	ENSP00000386306.1:p.Leu1284Ser
NM_002977.3:c.3851T>C , LRG_369t1:c.3851T>C (SCN9A)	NP_002968.1:p.Leu1284Ser
NR_110260.1:n.612-14815A>G (SCN1A-AS1)
XM_005246757.1:c.3884T>C (SCN9A)	XP_005246814.1:p.Leu1295Ser
XM_011511616.1:c.3884T>C (SCN9A)	XP_011509918.1:p.Leu1295Ser
XM_011511617.1:c.3884T>C (SCN9A)	XP_011509919.1:p.Leu1295Ser
XM_011511618.1:c.3851T>C (SCN9A)	XP_011509920.1:p.Leu1284Ser
XM_011511619.1:c.3884T>C (SCN9A)	XP_011509921.1:p.Leu1295Ser
NM_001365536.1:c.3884T>C (SCN9A) MANE Select	NP_001352465.1:p.Leu1295Ser
XM_011511616.3:c.3884T>C (SCN9A)	XP_011509918.1:p.Leu1295Ser
XM_011511617.2:c.3884T>C (SCN9A)	XP_011509919.1:p.Leu1295Ser
XM_011511618.2:c.3851T>C (SCN9A)	XP_011509920.1:p.Leu1284Ser
XM_011511619.2:c.3884T>C (SCN9A)	XP_011509921.1:p.Leu1295Ser
XM_017004668.1:c.3497T>C (SCN9A)	XP_016860157.1:p.Leu1166Ser
XM_017004669.1:c.3140T>C (SCN9A)	XP_016860158.1:p.Leu1047Ser