Canonical Allele Identifier: CA429902126

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 1593538
• ClinVar RCV Id: RCV002112958
• dbSNP Id: rs2106475336
• gnomAD v4: 2-166280375-T-C
• MyVariant Identifiers: chr2:g.167136885T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166280375T>C , CM000664.2:g.166280375T>C	GRCh38
NC_000002.11:g.167136885T>C , CM000664.1:g.167136885T>C	GRCh37
NC_000002.10:g.166845131T>C	NCBI36
NG_012798.1:g.100613A>G , LRG_369:g.100613A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2325A>G (SCN9A)	ENSP00000304748.7:p.Val775=
ENST00000409435.6:c.2325A>G (SCN9A)	ENSP00000386330.2:p.Val775=
ENST00000454569.6:c.2292A>G (SCN9A)	ENSP00000413212.2:p.Val764=
ENST00000642356.2:c.2325A>G (SCN9A) MANE Select	ENSP00000495601.1:p.Val775=
ENST00000644316.1:c.2292A>G (SCN9A)	ENSP00000493939.1:p.Val764=
ENST00000645907.1:c.2292A>G (SCN9A)	ENSP00000495983.1:p.Val764=
ENST00000667201.2:c.1327A>G (SCN9A)
ENST00000303354.10:c.2325A>G (SCN9A)	ENSP00000304748.7:p.Val775=
ENST00000409435.5:c.2325A>G (SCN9A)	ENSP00000386330.1:p.Val775=
ENST00000409672.5:c.2292A>G (SCN9A)	ENSP00000386306.1:p.Val764=
NM_002977.3:c.2292A>G , LRG_369t1:c.2292A>G (SCN9A)	NP_002968.1:p.Val764=
NR_110260.1:n.1029+3128T>C (SCN1A-AS1)
XM_005246757.1:c.2325A>G (SCN9A)	XP_005246814.1:p.Val775=
XM_011511616.1:c.2325A>G (SCN9A)	XP_011509918.1:p.Val775=
XM_011511617.1:c.2325A>G (SCN9A)	XP_011509919.1:p.Val775=
XM_011511618.1:c.2292A>G (SCN9A)	XP_011509920.1:p.Val764=
XM_011511619.1:c.2325A>G (SCN9A)	XP_011509921.1:p.Val775=
NM_001365536.1:c.2325A>G (SCN9A) MANE Select	NP_001352465.1:p.Val775=
XM_011511616.3:c.2325A>G (SCN9A)	XP_011509918.1:p.Val775=
XM_011511617.2:c.2325A>G (SCN9A)	XP_011509919.1:p.Val775=
XM_011511618.2:c.2292A>G (SCN9A)	XP_011509920.1:p.Val764=
XM_011511619.2:c.2325A>G (SCN9A)	XP_011509921.1:p.Val775=
XM_017004668.1:c.1938A>G (SCN9A)	XP_016860157.1:p.Val646=
XM_017004669.1:c.1581A>G (SCN9A)	XP_016860158.1:p.Val527=
XR_001738886.1:n.2639A>G (SCN9A)