Canonical Allele Identifier: CA2639311007

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63971912-G-GAC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63971914_63971915dup , CM000679.2:g.63971914_63971915dup	GRCh38
NC_000017.10:g.62049274_62049275dup , CM000679.1:g.62049274_62049275dup	GRCh37
NC_000017.9:g.59403006_59403007dup	NCBI36
NG_011699.1:g.6005_6006dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.483-64_483-63dup MANE Select	ENSP00000396320.1:n.483-64_483-63dup
ENST00000578147.5:c.483-64_483-63dup	ENSP00000463963.1:n.483-64_483-63dup
NM_000334.4:c.483-64_483-63dup MANE Select	NP_000325.4:n.483-64_483-63dup
XM_005257566.3:c.483-64_483-63dup	XP_005257623.1:n.483-64_483-63dup