Canonical Allele Identifier: CA292957568

Gene: SCN4A

Linked Data

• dbSNP Id: rs545455754
• MyVariant Identifiers: chr17:g.62019617_62019629del (hg19) ; chr17:g.63942257_63942269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942259_63942271del , CM000679.2:g.63942259_63942271del	GRCh38
NC_000017.10:g.62019619_62019631del , CM000679.1:g.62019619_62019631del	GRCh37
NC_000017.9:g.59373351_59373363del	NCBI36
NG_011699.1:g.35650_35662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-276_4289-264del MANE Select	ENSP00000396320.1:n.4289-276_4289-264del
ENST00000578147.5:c.4289-276_4289-264del	ENSP00000463963.1:n.4289-276_4289-264del
NM_000334.4:c.4289-276_4289-264del MANE Select	NP_000325.4:n.4289-276_4289-264del
XM_005257566.3:c.4289-276_4289-264del	XP_005257623.1:n.4289-276_4289-264del