Canonical Allele Identifier: CA8710305

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 477424
• ClinVar RCV Id: RCV000536313 ; RCV001123697 ; RCV001126368 ; RCV001123698 ; RCV001123699
• dbSNP Id: rs763166498
• ExAC: 17:62050157 C / T
• gnomAD v2: 17-62050157-C-T
• gnomAD v3: 17-63972797-C-T
• gnomAD v4: 17-63972797-C-T
• MyVariant Identifiers: chr17:g.62050157C>T (hg19) ; chr17:g.63972797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63972797C>T , CM000679.2:g.63972797C>T	GRCh38
NC_000017.10:g.62050157C>T , CM000679.1:g.62050157C>T	GRCh37
NC_000017.9:g.59403889C>T	NCBI36
NG_011699.1:g.5122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.45G>A MANE Select	ENSP00000396320.1:p.Glu15=
ENST00000578147.5:c.45G>A	ENSP00000463963.1:p.Glu15=
NM_000334.4:c.45G>A MANE Select	NP_000325.4:p.Glu15=
XM_005257566.3:c.45G>A	XP_005257623.1:p.Glu15=