Canonical Allele Identifier: CA2639310786

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63971871-CGGGACAGGCATGTCACCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63971875_63971892del , CM000679.2:g.63971875_63971892del	GRCh38
NC_000017.10:g.62049235_62049252del , CM000679.1:g.62049235_62049252del	GRCh37
NC_000017.9:g.59402967_59402984del	NCBI36
NG_011699.1:g.6030_6047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.483-39_483-22del MANE Select	ENSP00000396320.1:n.483-39_483-22del
ENST00000578147.5:c.483-39_483-22del	ENSP00000463963.1:n.483-39_483-22del
NM_000334.4:c.483-39_483-22del MANE Select	NP_000325.4:n.483-39_483-22del
XM_005257566.3:c.483-39_483-22del	XP_005257623.1:n.483-39_483-22del