Canonical Allele Identifier: CA537130923

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 892995
• ClinVar RCV Id: RCV001130028 ; RCV001135049 ; RCV001135050
• dbSNP Id: rs1313840276
• gnomAD v2: 2-167052453-G-T
• gnomAD v3: 2-166195943-G-T
• gnomAD v4: 2-166195943-G-T
• MyVariant Identifiers: chr2:g.167052453G>T (hg19) ; chr2:g.166195943G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166195943G>T , CM000664.2:g.166195943G>T	GRCh38
NC_000002.11:g.167052453G>T , CM000664.1:g.167052453G>T	GRCh37
NC_000002.10:g.166760699G>T	NCBI36
NG_012798.1:g.185045C>A , LRG_369:g.185045C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303354.11:c.*2729C>A (SCN9A)	ENSP00000304748.7:n.*2729C>A
ENST00000642356.2:c.*2729C>A (SCN9A) MANE Select	ENSP00000495601.1:n.*2729C>A
ENST00000303354.10:c.*2729C>A (SCN9A)	ENSP00000304748.7:n.*2729C>A
ENST00000409672.5:c.*2729C>A (SCN9A)	ENSP00000386306.1:n.*2729C>A
NM_002977.3:c.*2729C>A , LRG_369t1:c.*2729C>A (SCN9A)	NP_002968.1:n.*2729C>A
NR_110260.1:n.432-3696G>T (SCN1A-AS1)
NM_001365536.1:c.*2729C>A (SCN9A) MANE Select	NP_001352465.1:n.*2729C>A