Canonical Allele Identifier: CA10612775

Gene: SCN9A SCN1A-AS1

Linked Data

• ClinVar Variation Id: 331923
• ClinVar RCV Id: RCV000279794 ; RCV000294797 ; RCV000338316 ; RCV000402971
• dbSNP Id: rs548072061
• gnomAD v2: 2-167053104-G-A
• gnomAD v3: 2-166196594-G-A
• gnomAD v4: 2-166196594-G-A
• MyVariant Identifiers: chr2:g.167053104G>A (hg19) ; chr2:g.166196594G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.166196594G>A , CM000664.2:g.166196594G>A	GRCh38
NC_000002.11:g.167053104G>A , CM000664.1:g.167053104G>A	GRCh37
NC_000002.10:g.166761350G>A	NCBI36
NG_012798.1:g.184394C>T , LRG_369:g.184394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303354.11:c.*2078C>T (SCN9A)	ENSP00000304748.7:n.*2078C>T
ENST00000642356.2:c.*2078C>T (SCN9A) MANE Select	ENSP00000495601.1:n.*2078C>T
ENST00000303354.10:c.*2078C>T (SCN9A)	ENSP00000304748.7:n.*2078C>T
ENST00000409672.5:c.*2078C>T (SCN9A)	ENSP00000386306.1:n.*2078C>T
NM_002977.3:c.*2078C>T , LRG_369t1:c.*2078C>T (SCN9A)	NP_002968.1:n.*2078C>T
NR_110260.1:n.432-3045G>A (SCN1A-AS1)
NM_001365536.1:c.*2078C>T (SCN9A) MANE Select	NP_001352465.1:n.*2078C>T