Canonical Allele Identifier: CA2639311626

Gene: SCN4A

Linked Data

• gnomAD v4: 17-63972098-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63972101del , CM000679.2:g.63972101del	GRCh38
NC_000017.10:g.62049461del , CM000679.1:g.62049461del	GRCh37
NC_000017.9:g.59403193del	NCBI36
NG_011699.1:g.5820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.482+37del MANE Select	ENSP00000396320.1:n.482+37del
ENST00000578147.5:c.482+37del	ENSP00000463963.1:n.482+37del
NM_000334.4:c.482+37del MANE Select	NP_000325.4:n.482+37del
XM_005257566.3:c.482+37del	XP_005257623.1:n.482+37del