Canonical Allele Identifier: CA501348524

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 517689
• ClinVar RCV Id: RCV000601532 ; RCV001868091
• dbSNP Id: rs879253789
• gnomAD v3: 17-63941922-G-T
• gnomAD v4: 17-63941922-G-T
• MyVariant Identifiers: chr17:g.62019282G>T (hg19) ; chr17:g.63941922G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941922G>T , CM000679.2:g.63941922G>T	GRCh38
NC_000017.10:g.62019282G>T , CM000679.1:g.62019282G>T	GRCh37
NC_000017.9:g.59373014G>T	NCBI36
NG_011699.1:g.35997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4360C>A MANE Select	ENSP00000396320.1:p.Arg1454=
ENST00000578147.5:c.4360C>A	ENSP00000463963.1:p.Arg1454=
NM_000334.4:c.4360C>A MANE Select	NP_000325.4:p.Arg1454=
XM_005257566.3:c.4360C>A	XP_005257623.1:p.Arg1454=