Canonical Allele Identifier: CA2639313374

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63946995-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63946996_63946997dup , CM000679.2:g.63946996_63946997dup	GRCh38
NC_000017.10:g.62024356_62024357dup , CM000679.1:g.62024356_62024357dup	GRCh37
NC_000017.9:g.59378088_59378089dup	NCBI36
NG_011699.1:g.30922_30923dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.3441+48_3441+49dup MANE Select	ENSP00000396320.1:n.3441+48_3441+49dup
ENST00000578147.5:c.3441+48_3441+49dup	ENSP00000463963.1:n.3441+48_3441+49dup
NM_000334.4:c.3441+48_3441+49dup MANE Select	NP_000325.4:n.3441+48_3441+49dup
XM_005257566.3:c.3441+48_3441+49dup	XP_005257623.1:n.3441+48_3441+49dup