Canonical Allele Identifier: CA8709633

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 543822
• ClinVar RCV Id: RCV000654681 ; RCV001124588 ; RCV001124589 ; RCV001125592 ; RCV001125593
• dbSNP Id: rs368278422
• ExAC: 17:62034678 C / T
• gnomAD v2: 17-62034678-C-T
• gnomAD v3: 17-63957318-C-T
• gnomAD v4: 17-63957318-C-T
• MyVariant Identifiers: chr17:g.62034678C>T (hg19) ; chr17:g.63957318C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63957318C>T , CM000679.2:g.63957318C>T	GRCh38
NC_000017.10:g.62034678C>T , CM000679.1:g.62034678C>T	GRCh37
NC_000017.9:g.59388410C>T	NCBI36
NG_011699.1:g.20601G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.2220G>A MANE Select	ENSP00000396320.1:p.Pro740=
ENST00000578147.5:c.2220G>A	ENSP00000463963.1:p.Pro740=
NM_000334.4:c.2220G>A MANE Select	NP_000325.4:p.Pro740=
XM_005257566.3:c.2220G>A	XP_005257623.1:p.Pro740=