Canonical Allele Identifier: CA349070279

Gene: SCN9A SCN1A-AS1

Linked Data

• dbSNP Id: rs1169483344
• gnomAD v2: 2-167099074-C-A
• gnomAD v4: 2-166242564-C-A
• MyVariant Identifiers: chr2:g.167099074C>A (hg19) ; chr2:g.166242564C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166242564C>A , CM000664.2:g.166242564C>A	GRCh38
NC_000002.11:g.167099074C>A , CM000664.1:g.167099074C>A	GRCh37
NC_000002.10:g.166807320C>A	NCBI36
NG_012798.1:g.138424G>T , LRG_369:g.138424G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.3565G>T (SCN9A)	ENSP00000304748.7:p.Val1189Phe
ENST00000409435.6:c.3565G>T (SCN9A)	ENSP00000386330.2:p.Val1189Phe
ENST00000642356.2:c.3565G>T (SCN9A) MANE Select	ENSP00000495601.1:p.Val1189Phe
ENST00000644316.1:c.3532G>T (SCN9A)	ENSP00000493939.1:p.Val1178Phe
ENST00000645907.1:c.3532G>T (SCN9A)	ENSP00000495983.1:p.Val1178Phe
ENST00000303354.10:c.3565G>T (SCN9A)	ENSP00000304748.7:p.Val1189Phe
ENST00000409435.5:c.3565G>T (SCN9A)	ENSP00000386330.1:p.Val1189Phe
ENST00000409672.5:c.3532G>T (SCN9A)	ENSP00000386306.1:p.Val1178Phe
NM_002977.3:c.3532G>T , LRG_369t1:c.3532G>T (SCN9A)	NP_002968.1:p.Val1178Phe
NR_110260.1:n.612-5631C>A (SCN1A-AS1)
XM_005246757.1:c.3565G>T (SCN9A)	XP_005246814.1:p.Val1189Phe
XM_011511616.1:c.3565G>T (SCN9A)	XP_011509918.1:p.Val1189Phe
XM_011511617.1:c.3565G>T (SCN9A)	XP_011509919.1:p.Val1189Phe
XM_011511618.1:c.3532G>T (SCN9A)	XP_011509920.1:p.Val1178Phe
XM_011511619.1:c.3565G>T (SCN9A)	XP_011509921.1:p.Val1189Phe
NM_001365536.1:c.3565G>T (SCN9A) MANE Select	NP_001352465.1:p.Val1189Phe
XM_011511616.3:c.3565G>T (SCN9A)	XP_011509918.1:p.Val1189Phe
XM_011511617.2:c.3565G>T (SCN9A)	XP_011509919.1:p.Val1189Phe
XM_011511618.2:c.3532G>T (SCN9A)	XP_011509920.1:p.Val1178Phe
XM_011511619.2:c.3565G>T (SCN9A)	XP_011509921.1:p.Val1189Phe
XM_017004668.1:c.3178G>T (SCN9A)	XP_016860157.1:p.Val1060Phe
XM_017004669.1:c.2821G>T (SCN9A)	XP_016860158.1:p.Val941Phe