Canonical Allele Identifier: CA2639312637

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63972548-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63972550del , CM000679.2:g.63972550del	GRCh38
NC_000017.10:g.62049910del , CM000679.1:g.62049910del	GRCh37
NC_000017.9:g.59403642del	NCBI36
NG_011699.1:g.5370del

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.273+20del MANE Select	ENSP00000396320.1:n.273+20del
ENST00000578147.5:c.273+20del	ENSP00000463963.1:n.273+20del
NM_000334.4:c.273+20del MANE Select	NP_000325.4:n.273+20del
XM_005257566.3:c.273+20del	XP_005257623.1:n.273+20del