Canonical Allele Identifier: CA8708812

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 1007765
• ClinVar RCV Id: RCV001304994 ; RCV001579567 ; RCV002466658 ; RCV002486185
• dbSNP Id: rs373804267
• ExAC: 17:62018424 G / A
• gnomAD v2: 17-62018424-G-A
• gnomAD v3: 17-63941064-G-A
• gnomAD v4: 17-63941064-G-A
• MyVariant Identifiers: chr17:g.62018424G>A (hg19) ; chr17:g.63941064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941064G>A , CM000679.2:g.63941064G>A	GRCh38
NC_000017.10:g.62018424G>A , CM000679.1:g.62018424G>A	GRCh37
NC_000017.9:g.59372156G>A	NCBI36
NG_011699.1:g.36855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5218C>T MANE Select	ENSP00000396320.1:p.Arg1740Trp
ENST00000578147.5:c.5218C>T	ENSP00000463963.1:p.Arg1740Trp
NM_000334.4:c.5218C>T MANE Select	NP_000325.4:p.Arg1740Trp
XM_005257566.3:c.5218C>T	XP_005257623.1:p.Arg1740Trp