Canonical Allele Identifier: CA8709879

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324545
• ClinVar RCV Id: RCV000260665 ; RCV000275835 ; RCV000333499 ; RCV000353266 ; RCV000517185 ; RCV000529325
• dbSNP Id: rs369445518
• ExAC: 17:62041999 G / A
• gnomAD v2: 17-62041999-G-A
• gnomAD v3: 17-63964639-G-A
• gnomAD v4: 17-63964639-G-A
• MyVariant Identifiers: chr17:g.62041999G>A (hg19) ; chr17:g.63964639G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63964639G>A , CM000679.2:g.63964639G>A	GRCh38
NC_000017.10:g.62041999G>A , CM000679.1:g.62041999G>A	GRCh37
NC_000017.9:g.59395731G>A	NCBI36
NG_011699.1:g.13280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.1281C>T MANE Select	ENSP00000396320.1:p.Phe427=
ENST00000578147.5:c.1281C>T	ENSP00000463963.1:p.Phe427=
NM_000334.4:c.1281C>T MANE Select	NP_000325.4:p.Phe427=
XM_005257566.3:c.1281C>T	XP_005257623.1:p.Phe427=
XR_934910.1:n.265G>A
XR_001752969.1:n.1542G>A
XR_001752970.1:n.494G>A
XR_934910.2:n.1417G>A