Canonical Allele Identifier: CA760186982

Gene: SCN9A SCN1A-AS1

Linked Data

• dbSNP Id: rs1341367765
• gnomAD v3: 2-166233096-CATATATGCATACTATATATAGT-C
• gnomAD v4: 2-166233096-CATATATGCATACTATATATAGT-C
• MyVariant Identifiers: chr2:g.167089607_167089628del (hg19) ; chr2:g.166233097_166233118del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166233110_166233131del , CM000664.2:g.166233110_166233131del	GRCh38
NC_000002.11:g.167089620_167089641del , CM000664.1:g.167089620_167089641del	GRCh37
NC_000002.10:g.166797866_166797887del	NCBI36
NG_012798.1:g.147870_147891del , LRG_369:g.147870_147891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.3924+222_3924+243del (SCN9A)	ENSP00000304748.7:n.3924+222_3924+243del
ENST00000409435.6:c.3924+222_3924+243del (SCN9A)	ENSP00000386330.2:n.3924+222_3924+243del
ENST00000642356.2:c.3924+222_3924+243del (SCN9A) MANE Select	ENSP00000495601.1:n.3924+222_3924+243del
ENST00000644316.1:c.3769-4146_3769-4125del (SCN9A)	ENSP00000493939.1:n.3769-4146_3769-4125del
ENST00000645907.1:c.3891+222_3891+243del (SCN9A)	ENSP00000495983.1:n.3891+222_3891+243del
ENST00000303354.10:c.3924+222_3924+243del (SCN9A)	ENSP00000304748.7:n.3924+222_3924+243del
ENST00000409435.5:c.3924+222_3924+243del (SCN9A)	ENSP00000386330.1:n.3924+222_3924+243del
ENST00000409672.5:c.3891+222_3891+243del (SCN9A)	ENSP00000386306.1:n.3891+222_3891+243del
NM_002977.3:c.3891+222_3891+243del , LRG_369t1:c.3891+222_3891+243del (SCN9A)	NP_002968.1:n.3891+222_3891+243del
NR_110260.1:n.612-15085_612-15064del (SCN1A-AS1)
XM_005246757.1:c.3924+222_3924+243del (SCN9A)	XP_005246814.1:n.3924+222_3924+243del
XM_011511616.1:c.3924+222_3924+243del (SCN9A)	XP_011509918.1:n.3924+222_3924+243del
XM_011511617.1:c.3924+222_3924+243del (SCN9A)	XP_011509919.1:n.3924+222_3924+243del
XM_011511618.1:c.3891+222_3891+243del (SCN9A)	XP_011509920.1:n.3891+222_3891+243del
XM_011511619.1:c.3924+222_3924+243del (SCN9A)	XP_011509921.1:n.3924+222_3924+243del
NM_001365536.1:c.3924+222_3924+243del (SCN9A) MANE Select	NP_001352465.1:n.3924+222_3924+243del
XM_011511616.3:c.3924+222_3924+243del (SCN9A)	XP_011509918.1:n.3924+222_3924+243del
XM_011511617.2:c.3924+222_3924+243del (SCN9A)	XP_011509919.1:n.3924+222_3924+243del
XM_011511618.2:c.3891+222_3891+243del (SCN9A)	XP_011509920.1:n.3891+222_3891+243del
XM_011511619.2:c.3924+222_3924+243del (SCN9A)	XP_011509921.1:n.3924+222_3924+243del
XM_017004668.1:c.3537+222_3537+243del (SCN9A)	XP_016860157.1:n.3537+222_3537+243del
XM_017004669.1:c.3180+222_3180+243del (SCN9A)	XP_016860158.1:n.3180+222_3180+243del