Canonical Allele Identifier: CA117852

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 5920
• ClinVar RCV Id: RCV000489251 ; RCV000552020 ; RCV001799588 ; RCV001823093 ; RCV002225070 ; RCV002490328
• dbSNP Id: rs80338792
• MyVariant Identifiers: chr17:g.62021206C>T (hg19) ; chr17:g.63943846C>T (hg38)
• PubMed: PMID:8308722 ; PMID:16832098

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63943846C>T , CM000679.2:g.63943846C>T	GRCh38
NC_000017.10:g.62021206C>T , CM000679.1:g.62021206C>T	GRCh37
NC_000017.9:g.59374938C>T	NCBI36
NG_011699.1:g.34073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3917G>A MANE Select	ENSP00000396320.1:p.Gly1306Glu
ENST00000578147.5:c.3917G>A	ENSP00000463963.1:p.Arg1306Lys
NM_000334.4:c.3917G>A MANE Select	NP_000325.4:p.Gly1306Glu
XM_005257566.3:c.3917G>A	XP_005257623.1:p.Gly1306Glu