Canonical Allele Identifier: CA349074761

Gene: SCN9A SCN1A-AS1

Linked Data

• gnomAD v4: 2-166272803-G-A
• COSMIC: COSM3895225 ; COSM3895226
• MyVariant Identifiers: chr2:g.167129313G>A (hg19) ; chr2:g.166272803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166272803G>A , CM000664.2:g.166272803G>A	GRCh38
NC_000002.11:g.167129313G>A , CM000664.1:g.167129313G>A	GRCh37
NC_000002.10:g.166837559G>A	NCBI36
NG_012798.1:g.108185C>T , LRG_369:g.108185C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2947C>T (SCN9A)	ENSP00000304748.7:p.Pro983Ser
ENST00000409435.6:c.2947C>T (SCN9A)	ENSP00000386330.2:p.Pro983Ser
ENST00000642356.2:c.2947C>T (SCN9A) MANE Select	ENSP00000495601.1:p.Pro983Ser
ENST00000644316.1:c.2914C>T (SCN9A)	ENSP00000493939.1:p.Pro972Ser
ENST00000645907.1:c.2914C>T (SCN9A)	ENSP00000495983.1:p.Pro972Ser
ENST00000667201.2:c.1877-305C>T (SCN9A)
ENST00000303354.10:c.2947C>T (SCN9A)	ENSP00000304748.7:p.Pro983Ser
ENST00000409435.5:c.2947C>T (SCN9A)	ENSP00000386330.1:p.Pro983Ser
ENST00000409672.5:c.2914C>T (SCN9A)	ENSP00000386306.1:p.Pro972Ser
NM_002977.3:c.2914C>T , LRG_369t1:c.2914C>T (SCN9A)	NP_002968.1:p.Pro972Ser
NR_110260.1:n.870-4285G>A (SCN1A-AS1)
XM_005246757.1:c.2947C>T (SCN9A)	XP_005246814.1:p.Pro983Ser
XM_011511616.1:c.2947C>T (SCN9A)	XP_011509918.1:p.Pro983Ser
XM_011511617.1:c.2947C>T (SCN9A)	XP_011509919.1:p.Pro983Ser
XM_011511618.1:c.2914C>T (SCN9A)	XP_011509920.1:p.Pro972Ser
XM_011511619.1:c.2947C>T (SCN9A)	XP_011509921.1:p.Pro983Ser
NM_001365536.1:c.2947C>T (SCN9A) MANE Select	NP_001352465.1:p.Pro983Ser
XM_011511616.3:c.2947C>T (SCN9A)	XP_011509918.1:p.Pro983Ser
XM_011511617.2:c.2947C>T (SCN9A)	XP_011509919.1:p.Pro983Ser
XM_011511618.2:c.2914C>T (SCN9A)	XP_011509920.1:p.Pro972Ser
XM_011511619.2:c.2947C>T (SCN9A)	XP_011509921.1:p.Pro983Ser
XM_017004668.1:c.2560C>T (SCN9A)	XP_016860157.1:p.Pro854Ser
XM_017004669.1:c.2203C>T (SCN9A)	XP_016860158.1:p.Pro735Ser
XR_001738886.1:n.3415C>T (SCN9A)