Canonical Allele Identifier: CA2639316178

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63947190-T-TCAGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947192_63947196dup , CM000679.2:g.63947192_63947196dup	GRCh38
NC_000017.10:g.62024552_62024556dup , CM000679.1:g.62024552_62024556dup	GRCh37
NC_000017.9:g.59378284_59378288dup	NCBI36
NG_011699.1:g.30724_30728dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3319-28_3319-24dup MANE Select	ENSP00000396320.1:n.3319-28_3319-24dup
ENST00000578147.5:c.3319-28_3319-24dup	ENSP00000463963.1:n.3319-28_3319-24dup
NM_000334.4:c.3319-28_3319-24dup MANE Select	NP_000325.4:n.3319-28_3319-24dup
XM_005257566.3:c.3319-28_3319-24dup	XP_005257623.1:n.3319-28_3319-24dup