Canonical Allele Identifier: CA501349167

Gene: SCN4A

Linked Data

• MyVariant Identifiers: chr17:g.62038721G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63961361G>A , CM000679.2:g.63961361G>A	GRCh38
NC_000017.10:g.62038721G>A , CM000679.1:g.62038721G>A	GRCh37
NC_000017.9:g.59392453G>A	NCBI36
NG_011699.1:g.16558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.1677C>T MANE Select	ENSP00000396320.1:p.Asn559=
ENST00000578147.5:c.1677C>T	ENSP00000463963.1:p.Asn559=
ENST00000581514.1:n.333C>T
NM_000334.4:c.1677C>T MANE Select	NP_000325.4:p.Asn559=
XM_005257566.3:c.1677C>T	XP_005257623.1:p.Asn559=
XR_934910.1:n.124+639G>A
XR_001752969.1:n.1276+639G>A
XR_934910.2:n.1276+639G>A