Canonical Allele Identifier: CA501348304

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 543824
• ClinVar RCV Id: RCV000654686 ; RCV001126050 ; RCV001126051 ; RCV001126052 ; RCV001126049
• dbSNP Id: rs1244264430
• gnomAD v3: 17-63941134-C-T
• gnomAD v4: 17-63941134-C-T
• MyVariant Identifiers: chr17:g.62018494C>T (hg19) ; chr17:g.63941134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941134C>T , CM000679.2:g.63941134C>T	GRCh38
NC_000017.10:g.62018494C>T , CM000679.1:g.62018494C>T	GRCh37
NC_000017.9:g.59372226C>T	NCBI36
NG_011699.1:g.36785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.5148G>A MANE Select	ENSP00000396320.1:p.Glu1716=
ENST00000578147.5:c.5148G>A	ENSP00000463963.1:p.Glu1716=
NM_000334.4:c.5148G>A MANE Select	NP_000325.4:p.Glu1716=
XM_005257566.3:c.5148G>A	XP_005257623.1:p.Glu1716=