Canonical Allele Identifier: CA2036193974
Gene: SCN8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51806898G= , CM000674.2:g.51806898G= GRCh38
NC_000012.11:g.52200682G= , CM000674.1:g.52200682G= GRCh37
NC_000012.10:g.50486949G= NCBI36
NG_021180.2:g.220663G=
NG_021180.3:g.221941G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5412G= MANE Plus Clinical ENSP00000346534.4:p.Glu1804=
ENST00000627620.5:c.5412G= MANE Select ENSP00000487583.2:p.Glu1804=
ENST00000636945.2:c.3476G=
ENST00000662684.1:c.5412G= ENSP00000499636.1:p.Glu1804=
ENST00000668547.1:c.5289G= ENSP00000499691.1:p.Glu1763=
ENST00000354534.10:c.5412G= ENSP00000346534.4:p.Glu1804=
ENST00000355133.7:c.5289G= ENSP00000347255.4:p.Glu1763=
ENST00000545061.5:c.5289G= ENSP00000440360.1:p.Glu1763=
ENST00000599343.5:c.5445G= ENSP00000476447.3:p.Glu1815=
ENST00000627620.2:c.5412G= ENSP00000487583.1:p.Glu1804=
NM_001177984.2:c.5289G= NP_001171455.1:p.Glu1763=
NM_014191.3:c.5412G= NP_055006.1:p.Glu1804=
XM_006719556.2:c.5412G= XP_006719619.1:p.Glu1804=
XM_011538650.1:c.5412G= XP_011536952.1:p.Glu1804=
XM_011538651.1:c.5412G= XP_011536953.1:p.Glu1804=
NM_001330260.1:c.5412G= NP_001317189.1:p.Glu1804=
XM_006719556.4:c.5412G= XP_006719619.1:p.Glu1804=
XM_011538651.3:c.5412G= XP_011536953.1:p.Glu1804=
XM_017019794.2:c.5412G= XP_016875283.1:p.Glu1804=
XM_017019795.2:c.5289G= XP_016875284.1:p.Glu1763=
NM_001330260.2:c.5412G= MANE Select NP_001317189.1:p.Glu1804=
NM_001369788.1:c.5289G= NP_001356717.1:p.Glu1763=
NM_014191.4:c.5412G= MANE Plus Clinical NP_055006.1:p.Glu1804=
NM_001177984.3:c.5289G= NP_001171455.1:p.Glu1763=