Canonical Allele Identifier: CA8709220

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 1911420
• ClinVar RCV Id: RCV002596939
• dbSNP Id: rs761135349
• ExAC: 17:62022812 C / T
• gnomAD v2: 17-62022812-C-T
• gnomAD v3: 17-63945452-C-T
• gnomAD v4: 17-63945452-C-T
• MyVariant Identifiers: chr17:g.62022812C>T (hg19) ; chr17:g.63945452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63945452C>T , CM000679.2:g.63945452C>T	GRCh38
NC_000017.10:g.62022812C>T , CM000679.1:g.62022812C>T	GRCh37
NC_000017.9:g.59376544C>T	NCBI36
NG_011699.1:g.32467G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.3628G>A MANE Select	ENSP00000396320.1:p.Glu1210Lys
ENST00000578147.5:c.3628G>A	ENSP00000463963.1:p.Glu1210Lys
NM_000334.4:c.3628G>A MANE Select	NP_000325.4:p.Glu1210Lys
XM_005257566.3:c.3628G>A	XP_005257623.1:p.Glu1210Lys