Canonical Allele Identifier: CA279124

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 217263
• ClinVar RCV Id: RCV000201212 ; RCV001209122
• dbSNP Id: rs863225046
• gnomAD v2: 17-62019272-C-T
• gnomAD v3: 17-63941912-C-T
• gnomAD v4: 17-63941912-C-T
• MyVariant Identifiers: chr17:g.62019272C>T (hg19) ; chr17:g.63941912C>T (hg38)
• PubMed: PMID:25707578

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941912C>T , CM000679.2:g.63941912C>T	GRCh38
NC_000017.10:g.62019272C>T , CM000679.1:g.62019272C>T	GRCh37
NC_000017.9:g.59373004C>T	NCBI36
NG_011699.1:g.36007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4370G>A MANE Select	ENSP00000396320.1:p.Arg1457His
ENST00000578147.5:c.4370G>A	ENSP00000463963.1:p.Arg1457His
NM_000334.4:c.4370G>A MANE Select	NP_000325.4:p.Arg1457His
XM_005257566.3:c.4370G>A	XP_005257623.1:p.Arg1457His