Canonical Allele Identifier: CA10612767
Gene: SCN9A HGNC NCBI

Linked Data

ClinVar Variation Id: 331914
dbSNP Id: rs200790957

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166196444C>A , CM000664.2:g.166196444C>A GRCh38
NC_000002.11:g.167052954C>A , CM000664.1:g.167052954C>A GRCh37
NC_000002.10:g.166761200C>A NCBI36
NG_012798.1:g.184544G>T , LRG_369:g.184544G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303354.11:c.*2228G>T ENSP00000304748.7:p.=
ENST00000642356.2:c.*2228G>T MANE Select ENSP00000495601.1:p.=
ENST00000303354.10:c.*2228G>T ENSP00000304748.7:p.=
ENST00000409672.5:c.*2228G>T ENSP00000386306.1:p.=
NM_002977.3:c.*2228G>T , LRG_369t1:c.*2228G>T NP_002968.1:p.=
NR_110260.1:n.432-3195C>A
NM_001365536.1:c.*2228G>T MANE Select NP_001352465.1:p.=