Canonical Allele Identifier: CA501349124
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62038652C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961292C>A , CM000679.2:g.63961292C>A GRCh38
NC_000017.10:g.62038652C>A , CM000679.1:g.62038652C>A GRCh37
NC_000017.9:g.59392384C>A NCBI36
NG_011699.1:g.16627G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1746G>T MANE Select ENSP00000396320.1:p.Leu582=
ENST00000578147.5:c.1746G>T ENSP00000463963.1:p.Leu582=
ENST00000581514.1:n.402G>T
NM_000334.4:c.1746G>T MANE Select NP_000325.4:p.Leu582=
XM_005257566.3:c.1746G>T XP_005257623.1:p.Leu582=
XR_934910.1:n.124+570C>A
XR_001752969.1:n.1276+570C>A
XR_934910.2:n.1276+570C>A
Search 100 bp 5'
Search 100 bp 3'