Canonical Allele Identifier: CA2842085306

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63961359dup , CM000679.2:g.63961359dup	GRCh38
NC_000017.10:g.62038719dup , CM000679.1:g.62038719dup	GRCh37
NC_000017.9:g.59392451dup	NCBI36
NG_011699.1:g.16560dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.1679dup MANE Select	ENSP00000396320.1:p.Cys560TrpfsTer?
ENST00000578147.5:c.1679dup	ENSP00000463963.1:p.Cys560TrpfsTer?
ENST00000581514.1:n.335dup
NM_000334.4:c.1679dup MANE Select	NP_000325.4:p.Cys560TrpfsTer?
XM_005257566.3:c.1679dup	XP_005257623.1:p.Cys560TrpfsTer?
XR_934910.1:n.124+637dup
XR_001752969.1:n.1276+637dup
XR_934910.2:n.1276+637dup