Canonical Allele Identifier: CA2580094696

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 2044217
• ClinVar RCV Id: RCV002903519

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941810del , CM000679.2:g.63941810del	GRCh38
NC_000017.10:g.62019170del , CM000679.1:g.62019170del	GRCh37
NC_000017.9:g.59372902del	NCBI36
NG_011699.1:g.36109del

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.4472del MANE Select	ENSP00000396320.1:p.Leu1491ArgfsTer?
ENST00000578147.5:c.4472del	ENSP00000463963.1:p.Leu1491ArgfsTer?
NM_000334.4:c.4472del MANE Select	NP_000325.4:p.Leu1491ArgfsTer?
XM_005257566.3:c.4472del	XP_005257623.1:p.Leu1491ArgfsTer?