Canonical Allele Identifier: CA760183384

Gene: SCN9A

Linked Data

• dbSNP Id: rs1451562545
• gnomAD v3: 2-166320888-C-A
• gnomAD v4: 2-166320888-C-A
• MyVariant Identifiers: chr2:g.167177398C>A (hg19) ; chr2:g.166320888C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166320888C>A , CM000664.2:g.166320888C>A	GRCh38
NC_000002.11:g.167177398C>A , CM000664.1:g.167177398C>A	GRCh37
NC_000002.10:g.166885644C>A	NCBI36
NG_012798.1:g.60100G>T , LRG_369:g.60100G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.-50-9082G>T	ENSP00000304748.7:n.-50-9082G>T
ENST00000452182.2:c.-51+551G>T	ENSP00000393141.2:n.-51+551G>T
ENST00000454569.6:c.-50-9082G>T	ENSP00000413212.2:n.-50-9082G>T
ENST00000472119.2:n.306-9082G>T
ENST00000642356.2:c.-50-9082G>T MANE Select	ENSP00000495601.1:n.-50-9082G>T
ENST00000645907.1:c.-50-9082G>T	ENSP00000495983.1:n.-50-9082G>T
ENST00000303354.10:c.-50-9082G>T	ENSP00000304748.7:n.-50-9082G>T
ENST00000409672.5:c.-50-9082G>T	ENSP00000386306.1:n.-50-9082G>T
NM_002977.3:c.-50-9082G>T , LRG_369t1:c.-50-9082G>T	NP_002968.1:n.-50-9082G>T
XM_005246757.1:c.-50-9082G>T	XP_005246814.1:n.-50-9082G>T
XM_011511616.1:c.-50-9082G>T	XP_011509918.1:n.-50-9082G>T
XM_011511617.1:c.-50-9082G>T	XP_011509919.1:n.-50-9082G>T
XM_011511618.1:c.-50-9082G>T	XP_011509920.1:n.-50-9082G>T
XM_011511619.1:c.-50-9082G>T	XP_011509921.1:n.-50-9082G>T
NM_001365536.1:c.-50-9082G>T MANE Select	NP_001352465.1:n.-50-9082G>T
XM_011511616.3:c.-50-9082G>T	XP_011509918.1:n.-50-9082G>T
XM_011511617.2:c.-50-9082G>T	XP_011509919.1:n.-50-9082G>T
XM_011511618.2:c.-50-9082G>T	XP_011509920.1:n.-50-9082G>T
XM_011511619.2:c.-50-9082G>T	XP_011509921.1:n.-50-9082G>T
XR_001738886.1:n.265-9082G>T