Canonical Allele Identifier: CA985439512

Gene: SCN4A

Linked Data

• dbSNP Id: rs1908570261
• gnomAD v3: 17-63942348-ACT-A
• gnomAD v4: 17-63942348-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942351_63942352del , CM000679.2:g.63942351_63942352del	GRCh38
NC_000017.10:g.62019711_62019712del , CM000679.1:g.62019711_62019712del	GRCh37
NC_000017.9:g.59373443_59373444del	NCBI36
NG_011699.1:g.35569_35570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-357_4289-356del MANE Select	ENSP00000396320.1:n.4289-357_4289-356del
ENST00000578147.5:c.4289-357_4289-356del	ENSP00000463963.1:n.4289-357_4289-356del
NM_000334.4:c.4289-357_4289-356del MANE Select	NP_000325.4:n.4289-357_4289-356del
XM_005257566.3:c.4289-357_4289-356del	XP_005257623.1:n.4289-357_4289-356del