Canonical Allele Identifier: CA8708790

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324508
• ClinVar RCV Id: RCV000290622 ; RCV000345319 ; RCV000384970 ; RCV000393903 ; RCV000813822
• dbSNP Id: rs763493738
• ExAC: 17:62018358 C / T
• gnomAD v2: 17-62018358-C-T
• gnomAD v3: 17-63940998-C-T
• gnomAD v4: 17-63940998-C-T
• MyVariant Identifiers: chr17:g.62018358C>T (hg19) ; chr17:g.63940998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63940998C>T , CM000679.2:g.63940998C>T	GRCh38
NC_000017.10:g.62018358C>T , CM000679.1:g.62018358C>T	GRCh37
NC_000017.9:g.59372090C>T	NCBI36
NG_011699.1:g.36921G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5284G>A MANE Select	ENSP00000396320.1:p.Gly1762Arg
ENST00000578147.5:c.5284G>A	ENSP00000463963.1:p.Gly1762Arg
NM_000334.4:c.5284G>A MANE Select	NP_000325.4:p.Gly1762Arg
XM_005257566.3:c.5284G>A	XP_005257623.1:p.Gly1762Arg