Canonical Allele Identifier: CA2740095876

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 2941536
• ClinVar RCV Id: RCV003795238

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166198816dup , CM000664.2:g.166198816dup	GRCh38
NC_000002.11:g.167055326dup , CM000664.1:g.167055326dup	GRCh37
NC_000002.10:g.166763572dup	NCBI36
NG_012798.1:g.182173dup , LRG_369:g.182173dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.5824dup (SCN9A)	ENSP00000304748.7:p.Ser1942LysfsTer18
ENST00000409435.6:c.5824dup (SCN9A)	ENSP00000386330.2:p.Ser1942LysfsTer18
ENST00000642356.2:c.5824dup (SCN9A) MANE Select	ENSP00000495601.1:p.Ser1942LysfsTer18
ENST00000644316.1:c.5668dup (SCN9A)	ENSP00000493939.1:p.Ser1890LysfsTer18
ENST00000645907.1:c.5791dup (SCN9A)	ENSP00000495983.1:p.Ser1931LysfsTer18
ENST00000646694.1:n.2201dup (SCN9A)
ENST00000303354.10:c.5824dup (SCN9A)	ENSP00000304748.7:p.Ser1942LysfsTer18
ENST00000409435.5:c.5824dup (SCN9A)	ENSP00000386330.1:p.Ser1942LysfsTer18
ENST00000409672.5:c.5791dup (SCN9A)	ENSP00000386306.1:p.Ser1931LysfsTer18
NM_002977.3:c.5791dup , LRG_369t1:c.5791dup (SCN9A)	NP_002968.1:p.Ser1931LysfsTer18
NR_110260.1:n.432-823dup (SCN1A-AS1)
XM_005246757.1:c.5824dup (SCN9A)	XP_005246814.1:p.Ser1942LysfsTer18
XM_011511616.1:c.5824dup (SCN9A)	XP_011509918.1:p.Ser1942LysfsTer18
XM_011511617.1:c.5824dup (SCN9A)	XP_011509919.1:p.Ser1942LysfsTer18
XM_011511618.1:c.5791dup (SCN9A)	XP_011509920.1:p.Ser1931LysfsTer18
NM_001365536.1:c.5824dup (SCN9A) MANE Select	NP_001352465.1:p.Ser1942LysfsTer18
XM_011511616.3:c.5824dup (SCN9A)	XP_011509918.1:p.Ser1942LysfsTer18
XM_011511617.2:c.5824dup (SCN9A)	XP_011509919.1:p.Ser1942LysfsTer18
XM_011511618.2:c.5791dup (SCN9A)	XP_011509920.1:p.Ser1931LysfsTer18
XM_017004668.1:c.5437dup (SCN9A)	XP_016860157.1:p.Ser1813LysfsTer18
XM_017004669.1:c.5080dup (SCN9A)	XP_016860158.1:p.Ser1694LysfsTer18