Canonical Allele Identifier: CA8709757

Gene: SCN4A

Linked Data

• ClinVar Variation Id: 389065
• ClinVar RCV Id: RCV000440070 ; RCV002059909 ; RCV002506063 ; RCV003418131
• dbSNP Id: rs760067411
• ExAC: 17:62038688 G / A
• gnomAD v2: 17-62038688-G-A
• gnomAD v3: 17-63961328-G-A
• gnomAD v4: 17-63961328-G-A
• MyVariant Identifiers: chr17:g.62038688G>A (hg19) ; chr17:g.63961328G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63961328G>A , CM000679.2:g.63961328G>A	GRCh38
NC_000017.10:g.62038688G>A , CM000679.1:g.62038688G>A	GRCh37
NC_000017.9:g.59392420G>A	NCBI36
NG_011699.1:g.16591C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.1710C>T MANE Select	ENSP00000396320.1:p.Ile570=
ENST00000578147.5:c.1710C>T	ENSP00000463963.1:p.Ile570=
ENST00000581514.1:n.366C>T
NM_000334.4:c.1710C>T MANE Select	NP_000325.4:p.Ile570=
XM_005257566.3:c.1710C>T	XP_005257623.1:p.Ile570=
XR_934910.1:n.124+606G>A
XR_001752969.1:n.1276+606G>A
XR_934910.2:n.1276+606G>A