Canonical Allele Identifier: CA8709879

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63964639G>A , CM000679.2:g.63964639G>A	GRCh38
NC_000017.10:g.62041999G>A , CM000679.1:g.62041999G>A	GRCh37
NC_000017.9:g.59395731G>A	NCBI36
NG_011699.1:g.13280C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000334.4:c.1281C>T MANE Select	NP_000325.4:p.Phe427=
ENST00000435607.3:c.1281C>T MANE Select	ENSP00000396320.1:p.Phe427=
ENST00000578147.5:c.1281C>T	ENSP00000463963.1:p.Phe427=
XM_005257566.3:c.1281C>T	XP_005257623.1:p.Phe427=
XR_001752969.1:n.1542G>A
XR_001752970.1:n.494G>A
XR_934910.1:n.265G>A
XR_934910.2:n.1417G>A