Canonical Allele Identifier: CA8708891

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 840491
• ClinVar RCV Id: RCV001042494 ; RCV003405231
• dbSNP Id: rs369430918
• ExAC: 17:62018778 C / T
• gnomAD v2: 17-62018778-C-T
• gnomAD v3: 17-63941418-C-T
• gnomAD v4: 17-63941418-C-T
• MyVariant Identifiers: chr17:g.62018778C>T (hg19) ; chr17:g.63941418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941418C>T , CM000679.2:g.63941418C>T	GRCh38
NC_000017.10:g.62018778C>T , CM000679.1:g.62018778C>T	GRCh37
NC_000017.9:g.59372510C>T	NCBI36
NG_011699.1:g.36501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4864G>A MANE Select	ENSP00000396320.1:p.Glu1622Lys
ENST00000578147.5:c.4864G>A	ENSP00000463963.1:p.Glu1622Lys
NM_000334.4:c.4864G>A MANE Select	NP_000325.4:p.Glu1622Lys
XM_005257566.3:c.4864G>A	XP_005257623.1:p.Glu1622Lys