Canonical Allele Identifier: CA292957609

Gene: SCN4A

Linked Data

• dbSNP Id: rs546638674
• MyVariant Identifiers: chr17:g.62019628_62019634del (hg19) ; chr17:g.63942268_63942274del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942268_63942274del , CM000679.2:g.63942268_63942274del	GRCh38
NC_000017.10:g.62019628_62019634del , CM000679.1:g.62019628_62019634del	GRCh37
NC_000017.9:g.59373360_59373366del	NCBI36
NG_011699.1:g.35645_35651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-281_4289-275del MANE Select	ENSP00000396320.1:n.4289-281_4289-275del
ENST00000578147.5:c.4289-281_4289-275del	ENSP00000463963.1:n.4289-281_4289-275del
NM_000334.4:c.4289-281_4289-275del MANE Select	NP_000325.4:n.4289-281_4289-275del
XM_005257566.3:c.4289-281_4289-275del	XP_005257623.1:n.4289-281_4289-275del