Canonical Allele Identifier: CA10611203

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 331897
• ClinVar RCV Id: RCV000307555 ; RCV000311113 ; RCV000347160 ; RCV000399316
• dbSNP Id: rs139483482
• gnomAD v2: 2-167051900-T-G
• gnomAD v3: 2-166195390-T-G
• gnomAD v4: 2-166195390-T-G
• MyVariant Identifiers: chr2:g.167051900T>G (hg19) ; chr2:g.166195390T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166195390T>G , CM000664.2:g.166195390T>G	GRCh38
NC_000002.11:g.167051900T>G , CM000664.1:g.167051900T>G	GRCh37
NC_000002.10:g.166760146T>G	NCBI36
NG_012798.1:g.185598A>C , LRG_369:g.185598A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.*3282A>C (SCN9A)	ENSP00000304748.7:n.*3282A>C
ENST00000642356.2:c.*3282A>C (SCN9A) MANE Select	ENSP00000495601.1:n.*3282A>C
ENST00000303354.10:c.*3282A>C (SCN9A)	ENSP00000304748.7:n.*3282A>C
ENST00000409672.5:c.*3282A>C (SCN9A)	ENSP00000386306.1:n.*3282A>C
NM_002977.3:c.*3282A>C , LRG_369t1:c.*3282A>C (SCN9A)	NP_002968.1:n.*3282A>C
NR_110260.1:n.432-4249T>G (SCN1A-AS1)
NM_001365536.1:c.*3282A>C (SCN9A) MANE Select	NP_001352465.1:n.*3282A>C