Canonical Allele Identifier: CA8709235

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 805390
• ClinVar RCV Id: RCV000992894 ; RCV002489478
• dbSNP Id: rs147610324
• ExAC: 17:62022882 G / T
• gnomAD v2: 17-62022882-G-T
• gnomAD v3: 17-63945522-G-T
• gnomAD v4: 17-63945522-G-T
• MyVariant Identifiers: chr17:g.62022882G>T (hg19) ; chr17:g.63945522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63945522G>T , CM000679.2:g.63945522G>T	GRCh38
NC_000017.10:g.62022882G>T , CM000679.1:g.62022882G>T	GRCh37
NC_000017.9:g.59376614G>T	NCBI36
NG_011699.1:g.32397C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.3558C>A MANE Select	ENSP00000396320.1:p.Phe1186Leu
ENST00000578147.5:c.3558C>A	ENSP00000463963.1:p.Phe1186Leu
NM_000334.4:c.3558C>A MANE Select	NP_000325.4:p.Phe1186Leu
XM_005257566.3:c.3558C>A	XP_005257623.1:p.Phe1186Leu