Canonical Allele Identifier: CA400636446

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63966219G>T , CM000679.2:g.63966219G>T	GRCh38
NC_000017.10:g.62043579G>T , CM000679.1:g.62043579G>T	GRCh37
NC_000017.9:g.59397311G>T	NCBI36
NG_011699.1:g.11700C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000334.4:c.1125C>A MANE Select	NP_000325.4:p.Cys375Ter
ENST00000435607.3:c.1125C>A MANE Select	ENSP00000396320.1:p.Cys375Ter
ENST00000578147.5:c.1125C>A	ENSP00000463963.1:p.Cys375Ter
XM_005257566.3:c.1125C>A	XP_005257623.1:p.Cys375Ter
XR_001752969.1:n.1554-286G>T
XR_001752970.1:n.506-286G>T
XR_934910.1:n.277-286G>T
XR_934910.2:n.1429-286G>T