Canonical Allele Identifier: CA8710020

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324549
• ClinVar RCV Id: RCV000275919 ; RCV000329858 ; RCV000333300 ; RCV000367925 ; RCV000371590
• dbSNP Id: rs560230431
• ExAC: 17:62045561 C / T
• gnomAD v2: 17-62045561-C-T
• gnomAD v3: 17-63968201-C-T
• gnomAD v4: 17-63968201-C-T
• MyVariant Identifiers: chr17:g.62045561C>T (hg19) ; chr17:g.63968201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63968201C>T , CM000679.2:g.63968201C>T	GRCh38
NC_000017.10:g.62045561C>T , CM000679.1:g.62045561C>T	GRCh37
NC_000017.9:g.59399293C>T	NCBI36
NG_011699.1:g.9718G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.858G>A MANE Select	ENSP00000396320.1:p.Pro286=
ENST00000578147.5:c.858G>A	ENSP00000463963.1:p.Pro286=
NM_000334.4:c.858G>A MANE Select	NP_000325.4:p.Pro286=
XM_005257566.3:c.858G>A	XP_005257623.1:p.Pro286=