Canonical Allele Identifier: CA2270161416

Gene: SCN4A

Linked Data

• dbSNP Id: rs1908568758

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63942317_63942318del , CM000679.2:g.63942317_63942318del	GRCh38
NC_000017.10:g.62019677_62019678del , CM000679.1:g.62019677_62019678del	GRCh37
NC_000017.9:g.59373409_59373410del	NCBI36
NG_011699.1:g.35602_35603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-324_4289-323del MANE Select	ENSP00000396320.1:n.4289-324_4289-323del
ENST00000578147.5:c.4289-324_4289-323del	ENSP00000463963.1:n.4289-324_4289-323del
NM_000334.4:c.4289-324_4289-323del MANE Select	NP_000325.4:n.4289-324_4289-323del
XM_005257566.3:c.4289-324_4289-323del	XP_005257623.1:n.4289-324_4289-323del