Canonical Allele Identifier: CA8708825

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 477426
• ClinVar RCV Id: RCV000530869 ; RCV001091886 ; RCV001125081 ; RCV001125080 ; RCV001126048 ; RCV001125079 ; RCV004543246
• dbSNP Id: rs368263333
• ExAC: 17:62018461 C / T
• gnomAD v2: 17-62018461-C-T
• gnomAD v3: 17-63941101-C-T
• gnomAD v4: 17-63941101-C-T
• MyVariant Identifiers: chr17:g.62018461C>T (hg19) ; chr17:g.63941101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941101C>T , CM000679.2:g.63941101C>T	GRCh38
NC_000017.10:g.62018461C>T , CM000679.1:g.62018461C>T	GRCh37
NC_000017.9:g.59372193C>T	NCBI36
NG_011699.1:g.36818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5181G>A MANE Select	ENSP00000396320.1:p.Glu1727=
ENST00000578147.5:c.5181G>A	ENSP00000463963.1:p.Glu1727=
NM_000334.4:c.5181G>A MANE Select	NP_000325.4:p.Glu1727=
XM_005257566.3:c.5181G>A	XP_005257623.1:p.Glu1727=