Canonical Allele Identifier: CA349066425

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 1502601
• ClinVar RCV Id: RCV002022418
• dbSNP Id: rs2106395566
• gnomAD v4: 2-166233383-G-A
• MyVariant Identifiers: chr2:g.167089893G>A (hg19) ; chr2:g.166233383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166233383G>A , CM000664.2:g.166233383G>A	GRCh38
NC_000002.11:g.167089893G>A , CM000664.1:g.167089893G>A	GRCh37
NC_000002.10:g.166798139G>A	NCBI36
NG_012798.1:g.147605C>T , LRG_369:g.147605C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.3881C>T (SCN9A)	ENSP00000304748.7:p.Ala1294Val
ENST00000409435.6:c.3881C>T (SCN9A)	ENSP00000386330.2:p.Ala1294Val
ENST00000642356.2:c.3881C>T (SCN9A) MANE Select	ENSP00000495601.1:p.Ala1294Val
ENST00000644316.1:c.3769-4411C>T (SCN9A)	ENSP00000493939.1:n.3769-4411C>T
ENST00000645907.1:c.3848C>T (SCN9A)	ENSP00000495983.1:p.Ala1283Val
ENST00000303354.10:c.3881C>T (SCN9A)	ENSP00000304748.7:p.Ala1294Val
ENST00000409435.5:c.3881C>T (SCN9A)	ENSP00000386330.1:p.Ala1294Val
ENST00000409672.5:c.3848C>T (SCN9A)	ENSP00000386306.1:p.Ala1283Val
NM_002977.3:c.3848C>T , LRG_369t1:c.3848C>T (SCN9A)	NP_002968.1:p.Ala1283Val
NR_110260.1:n.612-14812G>A (SCN1A-AS1)
XM_005246757.1:c.3881C>T (SCN9A)	XP_005246814.1:p.Ala1294Val
XM_011511616.1:c.3881C>T (SCN9A)	XP_011509918.1:p.Ala1294Val
XM_011511617.1:c.3881C>T (SCN9A)	XP_011509919.1:p.Ala1294Val
XM_011511618.1:c.3848C>T (SCN9A)	XP_011509920.1:p.Ala1283Val
XM_011511619.1:c.3881C>T (SCN9A)	XP_011509921.1:p.Ala1294Val
NM_001365536.1:c.3881C>T (SCN9A) MANE Select	NP_001352465.1:p.Ala1294Val
XM_011511616.3:c.3881C>T (SCN9A)	XP_011509918.1:p.Ala1294Val
XM_011511617.2:c.3881C>T (SCN9A)	XP_011509919.1:p.Ala1294Val
XM_011511618.2:c.3848C>T (SCN9A)	XP_011509920.1:p.Ala1283Val
XM_011511619.2:c.3881C>T (SCN9A)	XP_011509921.1:p.Ala1294Val
XM_017004668.1:c.3494C>T (SCN9A)	XP_016860157.1:p.Ala1165Val
XM_017004669.1:c.3137C>T (SCN9A)	XP_016860158.1:p.Ala1046Val