Canonical Allele Identifier: CA2270162643
Gene: SCN4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944692A= , CM000679.2:g.63944692A= GRCh38
NC_000017.10:g.62022052A= , CM000679.1:g.62022052A= GRCh37
NC_000017.9:g.59375784A= NCBI36
NG_011699.1:g.33227T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3893T= MANE Select ENSP00000396320.1:p.Phe1298=
ENST00000578147.5:c.3893T= ENSP00000463963.1:p.Phe1298=
NM_000334.4:c.3893T= MANE Select NP_000325.4:p.Phe1298=
XM_005257566.3:c.3893T= XP_005257623.1:p.Phe1298=