Canonical Allele Identifier: CA8708892

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 324513
• ClinVar RCV Id: RCV000277970 ; RCV000293279 ; RCV000320145 ; RCV000333010 ; RCV000387599 ; RCV000516431
• dbSNP Id: rs769625349
• ExAC: 17:62018779 G / A
• gnomAD v2: 17-62018779-G-A
• gnomAD v3: 17-63941419-G-A
• gnomAD v4: 17-63941419-G-A
• MyVariant Identifiers: chr17:g.62018779G>A (hg19) ; chr17:g.63941419G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63941419G>A , CM000679.2:g.63941419G>A	GRCh38
NC_000017.10:g.62018779G>A , CM000679.1:g.62018779G>A	GRCh37
NC_000017.9:g.59372511G>A	NCBI36
NG_011699.1:g.36500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.4863C>T MANE Select	ENSP00000396320.1:p.Tyr1621=
ENST00000578147.5:c.4863C>T	ENSP00000463963.1:p.Tyr1621=
NM_000334.4:c.4863C>T MANE Select	NP_000325.4:p.Tyr1621=
XM_005257566.3:c.4863C>T	XP_005257623.1:p.Tyr1621=