Canonical Allele Identifier: CA2639311105
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971955_63971956insCTGAGTGGCATA , CM000679.2:g.63971955_63971956insCTGAGTGGCATA GRCh38
NC_000017.10:g.62049315_62049316insCTGAGTGGCATA , CM000679.1:g.62049315_62049316insCTGAGTGGCATA GRCh37
NC_000017.9:g.59403047_59403048insCTGAGTGGCATA NCBI36
NG_011699.1:g.5963_5964insTATGCCACTCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.483-106_483-105insTATGCCACTCAG MANE Select ENSP00000396320.1:n.483-106_483-105insTATGCCACTCAG
ENST00000578147.5:c.483-106_483-105insTATGCCACTCAG ENSP00000463963.1:n.483-106_483-105insTATGCCACTCAG
NM_000334.4:c.483-106_483-105insTATGCCACTCAG MANE Select NP_000325.4:n.483-106_483-105insTATGCCACTCAG
XM_005257566.3:c.483-106_483-105insTATGCCACTCAG XP_005257623.1:n.483-106_483-105insTATGCCACTCAG