Canonical Allele Identifier: CA2639315170

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63947017-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947019_63947020del , CM000679.2:g.63947019_63947020del	GRCh38
NC_000017.10:g.62024379_62024380del , CM000679.1:g.62024379_62024380del	GRCh37
NC_000017.9:g.59378111_59378112del	NCBI36
NG_011699.1:g.30900_30901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3441+26_3441+27del MANE Select	ENSP00000396320.1:n.3441+26_3441+27del
ENST00000578147.5:c.3441+26_3441+27del	ENSP00000463963.1:n.3441+26_3441+27del
NM_000334.4:c.3441+26_3441+27del MANE Select	NP_000325.4:n.3441+26_3441+27del
XM_005257566.3:c.3441+26_3441+27del	XP_005257623.1:n.3441+26_3441+27del