Canonical Allele Identifier: CA8709937

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324547
• ClinVar RCV Id: RCV000298173 ; RCV000313546 ; RCV000352046 ; RCV000392293 ; RCV000398957
• dbSNP Id: rs533321924
• ExAC: 17:62043826 C / T
• gnomAD v2: 17-62043826-C-T
• gnomAD v3: 17-63966466-C-T
• gnomAD v4: 17-63966466-C-T
• MyVariant Identifiers: chr17:g.62043826C>T (hg19) ; chr17:g.63966466C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63966466C>T , CM000679.2:g.63966466C>T	GRCh38
NC_000017.10:g.62043826C>T , CM000679.1:g.62043826C>T	GRCh37
NC_000017.9:g.59397558C>T	NCBI36
NG_011699.1:g.11453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.1100+15G>A MANE Select	ENSP00000396320.1:n.1100+15G>A
ENST00000578147.5:c.1100+15G>A	ENSP00000463963.1:n.1100+15G>A
NM_000334.4:c.1100+15G>A MANE Select	NP_000325.4:n.1100+15G>A
XM_005257566.3:c.1100+15G>A	XP_005257623.1:n.1100+15G>A
XR_934910.1:n.277-39C>T
XR_001752969.1:n.1554-39C>T
XR_001752970.1:n.506-39C>T
XR_934910.2:n.1429-39C>T