Canonical Allele Identifier: CA774008646

Gene: SCN4A

Linked Data

• dbSNP Id: rs1208889743
• MyVariant Identifiers: chr17:g.62021913_62021923del (hg19) ; chr17:g.63944553_63944563del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944553_63944563del , CM000679.2:g.63944553_63944563del	GRCh38
NC_000017.10:g.62021913_62021923del , CM000679.1:g.62021913_62021923del	GRCh37
NC_000017.9:g.59375645_59375655del	NCBI36
NG_011699.1:g.33356_33366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3912+110_3912+120del MANE Select	ENSP00000396320.1:n.3912+110_3912+120del
ENST00000578147.5:c.3916+106_3916+116del	ENSP00000463963.1:n.3916+106_3916+116del
NM_000334.4:c.3912+110_3912+120del MANE Select	NP_000325.4:n.3912+110_3912+120del
XM_005257566.3:c.3912+110_3912+120del	XP_005257623.1:n.3912+110_3912+120del