Canonical Allele Identifier: CA349077879

Gene: SCN9A SCN1A-AS1

Linked Data

• dbSNP Id: rs1307256880
• gnomAD v2: 2-167133714-T-C
• gnomAD v4: 2-166277204-T-C
• MyVariant Identifiers: chr2:g.167133714T>C (hg19) ; chr2:g.166277204T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166277204T>C , CM000664.2:g.166277204T>C	GRCh38
NC_000002.11:g.167133714T>C , CM000664.1:g.167133714T>C	GRCh37
NC_000002.10:g.166841960T>C	NCBI36
NG_012798.1:g.103784A>G , LRG_369:g.103784A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.2653A>G (SCN9A)	ENSP00000304748.7:p.Met885Val
ENST00000409435.6:c.2653A>G (SCN9A)	ENSP00000386330.2:p.Met885Val
ENST00000642356.2:c.2653A>G (SCN9A) MANE Select	ENSP00000495601.1:p.Met885Val
ENST00000644316.1:c.2620A>G (SCN9A)	ENSP00000493939.1:p.Met874Val
ENST00000645283.1:c.310A>G (SCN9A)	ENSP00000496086.1:p.Met104Val
ENST00000645907.1:c.2620A>G (SCN9A)	ENSP00000495983.1:p.Met874Val
ENST00000667201.2:c.1655A>G (SCN9A)
ENST00000303354.10:c.2653A>G (SCN9A)	ENSP00000304748.7:p.Met885Val
ENST00000409435.5:c.2653A>G (SCN9A)	ENSP00000386330.1:p.Met885Val
ENST00000409672.5:c.2620A>G (SCN9A)	ENSP00000386306.1:p.Met874Val
NM_002977.3:c.2620A>G , LRG_369t1:c.2620A>G (SCN9A)	NP_002968.1:p.Met874Val
NR_110260.1:n.986T>C (SCN1A-AS1)
XM_005246757.1:c.2653A>G (SCN9A)	XP_005246814.1:p.Met885Val
XM_011511616.1:c.2653A>G (SCN9A)	XP_011509918.1:p.Met885Val
XM_011511617.1:c.2653A>G (SCN9A)	XP_011509919.1:p.Met885Val
XM_011511618.1:c.2620A>G (SCN9A)	XP_011509920.1:p.Met874Val
XM_011511619.1:c.2653A>G (SCN9A)	XP_011509921.1:p.Met885Val
NM_001365536.1:c.2653A>G (SCN9A) MANE Select	NP_001352465.1:p.Met885Val
XM_011511616.3:c.2653A>G (SCN9A)	XP_011509918.1:p.Met885Val
XM_011511617.2:c.2653A>G (SCN9A)	XP_011509919.1:p.Met885Val
XM_011511618.2:c.2620A>G (SCN9A)	XP_011509920.1:p.Met874Val
XM_011511619.2:c.2653A>G (SCN9A)	XP_011509921.1:p.Met885Val
XM_017004668.1:c.2266A>G (SCN9A)	XP_016860157.1:p.Met756Val
XM_017004669.1:c.1909A>G (SCN9A)	XP_016860158.1:p.Met637Val
XR_001738886.1:n.2967A>G (SCN9A)