Canonical Allele Identifier: CA59781473
Community Standard Title: NM_001365536.1(SCN9A):c.*1417A>G
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166197255T>C , CM000664.2:g.166197255T>C GRCh38
NC_000002.11:g.167053765T>C , CM000664.1:g.167053765T>C GRCh37
NC_000002.10:g.166762011T>C NCBI36
NG_012798.1:g.183733A>G , LRG_369:g.183733A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001365536.1:c.*1417A>G (SCN9A) MANE Select NP_001352465.1:n.*1417A>G
ENST00000642356.2:c.*1417A>G (SCN9A) MANE Select ENSP00000495601.1:n.*1417A>G
NM_002977.3:c.*1417A>G , LRG_369t1:c.*1417A>G (SCN9A) NP_002968.1:n.*1417A>G
NR_110260.1:n.432-2384T>C (SCN1A-AS1)
ENST00000303354.10:c.*1417A>G (SCN9A) ENSP00000304748.7:n.*1417A>G
ENST00000303354.11:c.*1417A>G (SCN9A) ENSP00000304748.7:n.*1417A>G
ENST00000409672.5:c.*1417A>G (SCN9A) ENSP00000386306.1:n.*1417A>G