Canonical Allele Identifier: CA626860718

Gene: SCN4A

Linked Data

• dbSNP Id: rs1306444853
• gnomAD v2: 17-62019356-G-GGACAGGATGA
• MyVariant Identifiers: chr17:g.62019356_62019357insGACAGGATGA (hg19) ; chr17:g.63941996_63941997insGACAGGATGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941996_63941997insGACAGGATGA , CM000679.2:g.63941996_63941997insGACAGGATGA	GRCh38
NC_000017.10:g.62019356_62019357insGACAGGATGA , CM000679.1:g.62019356_62019357insGACAGGATGA	GRCh37
NC_000017.9:g.59373088_59373089insGACAGGATGA	NCBI36
NG_011699.1:g.35922_35923insTCATCCTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4289-4_4289-3insTCATCCTGTC MANE Select	ENSP00000396320.1:n.4289-4_4289-3insTCATCCTGTC
ENST00000578147.5:c.4289-4_4289-3insTCATCCTGTC	ENSP00000463963.1:n.4289-4_4289-3insTCATCCTGTC
NM_000334.4:c.4289-4_4289-3insTCATCCTGTC MANE Select	NP_000325.4:n.4289-4_4289-3insTCATCCTGTC
XM_005257566.3:c.4289-4_4289-3insTCATCCTGTC	XP_005257623.1:n.4289-4_4289-3insTCATCCTGTC