Canonical Allele Identifier: CA8709288

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 477417
• ClinVar RCV Id: RCV000557400 ; RCV003227493
• dbSNP Id: rs780703403
• ExAC: 17:62024421 C / T
• gnomAD v2: 17-62024421-C-T
• gnomAD v3: 17-63947061-C-T
• gnomAD v4: 17-63947061-C-T
• MyVariant Identifiers: chr17:g.62024421C>T (hg19) ; chr17:g.63947061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63947061C>T , CM000679.2:g.63947061C>T	GRCh38
NC_000017.10:g.62024421C>T , CM000679.1:g.62024421C>T	GRCh37
NC_000017.9:g.59378153C>T	NCBI36
NG_011699.1:g.30858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3425G>A MANE Select	ENSP00000396320.1:p.Arg1142Gln
ENST00000578147.5:c.3425G>A	ENSP00000463963.1:p.Arg1142Gln
NM_000334.4:c.3425G>A MANE Select	NP_000325.4:p.Arg1142Gln
XM_005257566.3:c.3425G>A	XP_005257623.1:p.Arg1142Gln