Canonical Allele Identifier: CA349074657

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 952898
• ClinVar RCV Id: RCV001225099 ; RCV002436875
• dbSNP Id: rs1354458914
• gnomAD v3: 2-166272782-T-C
• gnomAD v4: 2-166272782-T-C
• MyVariant Identifiers: chr2:g.167129292T>C (hg19) ; chr2:g.166272782T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166272782T>C , CM000664.2:g.166272782T>C	GRCh38
NC_000002.11:g.167129292T>C , CM000664.1:g.167129292T>C	GRCh37
NC_000002.10:g.166837538T>C	NCBI36
NG_012798.1:g.108206A>G , LRG_369:g.108206A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2968A>G (SCN9A)	ENSP00000304748.7:p.Ile990Val
ENST00000409435.6:c.2968A>G (SCN9A)	ENSP00000386330.2:p.Ile990Val
ENST00000642356.2:c.2968A>G (SCN9A) MANE Select	ENSP00000495601.1:p.Ile990Val
ENST00000644316.1:c.2935A>G (SCN9A)	ENSP00000493939.1:p.Ile979Val
ENST00000645907.1:c.2935A>G (SCN9A)	ENSP00000495983.1:p.Ile979Val
ENST00000667201.2:c.1877-284A>G (SCN9A)
ENST00000303354.10:c.2968A>G (SCN9A)	ENSP00000304748.7:p.Ile990Val
ENST00000409435.5:c.2968A>G (SCN9A)	ENSP00000386330.1:p.Ile990Val
ENST00000409672.5:c.2935A>G (SCN9A)	ENSP00000386306.1:p.Ile979Val
NM_002977.3:c.2935A>G , LRG_369t1:c.2935A>G (SCN9A)	NP_002968.1:p.Ile979Val
NR_110260.1:n.870-4306T>C (SCN1A-AS1)
XM_005246757.1:c.2968A>G (SCN9A)	XP_005246814.1:p.Ile990Val
XM_011511616.1:c.2968A>G (SCN9A)	XP_011509918.1:p.Ile990Val
XM_011511617.1:c.2968A>G (SCN9A)	XP_011509919.1:p.Ile990Val
XM_011511618.1:c.2935A>G (SCN9A)	XP_011509920.1:p.Ile979Val
XM_011511619.1:c.2968A>G (SCN9A)	XP_011509921.1:p.Ile990Val
NM_001365536.1:c.2968A>G (SCN9A) MANE Select	NP_001352465.1:p.Ile990Val
XM_011511616.3:c.2968A>G (SCN9A)	XP_011509918.1:p.Ile990Val
XM_011511617.2:c.2968A>G (SCN9A)	XP_011509919.1:p.Ile990Val
XM_011511618.2:c.2935A>G (SCN9A)	XP_011509920.1:p.Ile979Val
XM_011511619.2:c.2968A>G (SCN9A)	XP_011509921.1:p.Ile990Val
XM_017004668.1:c.2581A>G (SCN9A)	XP_016860157.1:p.Ile861Val
XM_017004669.1:c.2224A>G (SCN9A)	XP_016860158.1:p.Ile742Val