Canonical Allele Identifier: CA8709204

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 255850
• ClinVar RCV Id: RCV000252373 ; RCV000548877 ; RCV001122919 ; RCV001128615 ; RCV001128616 ; RCV001128617 ; RCV002500859
• dbSNP Id: rs9303466
• ExAC: 17:62022711 C / A
• gnomAD v2: 17-62022711-C-A
• gnomAD v3: 17-63945351-C-A
• gnomAD v4: 17-63945351-C-A
• MyVariant Identifiers: chr17:g.62022711C>A (hg19) ; chr17:g.63945351C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63945351C>A , CM000679.2:g.63945351C>A	GRCh38
NC_000017.10:g.62022711C>A , CM000679.1:g.62022711C>A	GRCh37
NC_000017.9:g.59376443C>A	NCBI36
NG_011699.1:g.32568G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3720+9G>T MANE Select	ENSP00000396320.1:n.3720+9G>T
ENST00000578147.5:c.3720+9G>T	ENSP00000463963.1:n.3720+9G>T
NM_000334.4:c.3720+9G>T MANE Select	NP_000325.4:n.3720+9G>T
XM_005257566.3:c.3720+9G>T	XP_005257623.1:n.3720+9G>T