Canonical Allele Identifier: CA59781015
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1041153329
gnomAD v3: 2-166196543-T-G
gnomAD v4: 2-166196543-T-G
MyVariant Identifiers: chr2:g.167053053T>G (hg19) chr2:g.166196543T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166196543T>G , CM000664.2:g.166196543T>G GRCh38
NC_000002.11:g.167053053T>G , CM000664.1:g.167053053T>G GRCh37
NC_000002.10:g.166761299T>G NCBI36
NG_012798.1:g.184445A>C , LRG_369:g.184445A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.*2129A>C (SCN9A) ENSP00000304748.7:n.*2129A>C
ENST00000642356.2:c.*2129A>C (SCN9A) MANE Select ENSP00000495601.1:n.*2129A>C
ENST00000303354.10:c.*2129A>C (SCN9A) ENSP00000304748.7:n.*2129A>C
ENST00000409672.5:c.*2129A>C (SCN9A) ENSP00000386306.1:n.*2129A>C
NM_002977.3:c.*2129A>C , LRG_369t1:c.*2129A>C (SCN9A) NP_002968.1:n.*2129A>C
NR_110260.1:n.432-3096T>G (SCN1A-AS1)
NM_001365536.1:c.*2129A>C (SCN9A) MANE Select NP_001352465.1:n.*2129A>C
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