Canonical Allele Identifier: CA2576355620

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63945416dup , CM000679.2:g.63945416dup	GRCh38
NC_000017.10:g.62022776dup , CM000679.1:g.62022776dup	GRCh37
NC_000017.9:g.59376508dup	NCBI36
NG_011699.1:g.32504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3665dup MANE Select	ENSP00000396320.1:p.Asn1222LysfsTer?
ENST00000578147.5:c.3665dup	ENSP00000463963.1:p.Asn1222LysfsTer?
NM_000334.4:c.3665dup MANE Select	NP_000325.4:p.Asn1222LysfsTer?
XM_005257566.3:c.3665dup	XP_005257623.1:p.Asn1222LysfsTer?