Canonical Allele Identifier: CA501349141

Gene: SCN4A

Linked Data

• MyVariant Identifiers: chr17:g.62038673G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63961313G>T , CM000679.2:g.63961313G>T	GRCh38
NC_000017.10:g.62038673G>T , CM000679.1:g.62038673G>T	GRCh37
NC_000017.9:g.59392405G>T	NCBI36
NG_011699.1:g.16606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.1725C>A MANE Select	ENSP00000396320.1:p.Val575=
ENST00000578147.5:c.1725C>A	ENSP00000463963.1:p.Val575=
ENST00000581514.1:n.381C>A
NM_000334.4:c.1725C>A MANE Select	NP_000325.4:p.Val575=
XM_005257566.3:c.1725C>A	XP_005257623.1:p.Val575=
XR_934910.1:n.124+591G>T
XR_001752969.1:n.1276+591G>T
XR_934910.2:n.1276+591G>T