Canonical Allele Identifier: CA2270170488

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63961292C= , CM000679.2:g.63961292C=	GRCh38
NC_000017.10:g.62038652C= , CM000679.1:g.62038652C=	GRCh37
NC_000017.9:g.59392384C=	NCBI36
NG_011699.1:g.16627G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.1746G= MANE Select	ENSP00000396320.1:p.Leu582=
ENST00000578147.5:c.1746G=	ENSP00000463963.1:p.Leu582=
ENST00000581514.1:n.402G=
NM_000334.4:c.1746G= MANE Select	NP_000325.4:p.Leu582=
XM_005257566.3:c.1746G=	XP_005257623.1:p.Leu582=
XR_934910.1:n.124+570C=
XR_001752969.1:n.1276+570C=
XR_934910.2:n.1276+570C=