Canonical Allele Identifier: CA292959131

Gene: SCN4A

Linked Data

• dbSNP Id: rs942909322
• MyVariant Identifiers: chr17:g.62021728_62021729del (hg19) ; chr17:g.63944368_63944369del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63944369_63944370del , CM000679.2:g.63944369_63944370del	GRCh38
NC_000017.10:g.62021729_62021730del , CM000679.1:g.62021729_62021730del	GRCh37
NC_000017.9:g.59375461_59375462del	NCBI36
NG_011699.1:g.33550_33551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3912+304_3912+305del MANE Select	ENSP00000396320.1:n.3912+304_3912+305del
ENST00000578147.5:c.3916+300_3916+301del	ENSP00000463963.1:n.3916+300_3916+301del
NM_000334.4:c.3912+304_3912+305del MANE Select	NP_000325.4:n.3912+304_3912+305del
XM_005257566.3:c.3912+304_3912+305del	XP_005257623.1:n.3912+304_3912+305del