Canonical Allele Identifier: CA8709830

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63963816C>T , CM000679.2:g.63963816C>T	GRCh38
NC_000017.10:g.62041176C>T , CM000679.1:g.62041176C>T	GRCh37
NC_000017.9:g.59394908C>T	NCBI36
NG_011699.1:g.14103G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000334.4:c.1462G>A MANE Select	NP_000325.4:p.Ala488Thr
ENST00000435607.3:c.1462G>A MANE Select	ENSP00000396320.1:p.Ala488Thr
ENST00000578147.5:c.1462G>A	ENSP00000463963.1:p.Ala488Thr
XM_005257566.3:c.1462G>A	XP_005257623.1:p.Ala488Thr
XR_001752969.1:n.1327-268C>T
XR_001752970.1:n.279-268C>T
XR_934910.1:n.174+502C>T
XR_934910.2:n.1326+502C>T