Canonical Allele Identifier: CA2270160933
Gene: SCN4A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941418C= , CM000679.2:g.63941418C= GRCh38
NC_000017.10:g.62018778C= , CM000679.1:g.62018778C= GRCh37
NC_000017.9:g.59372510C= NCBI36
NG_011699.1:g.36501G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4864G= MANE Select ENSP00000396320.1:p.Glu1622=
ENST00000578147.5:c.4864G= ENSP00000463963.1:p.Glu1622=
NM_000334.4:c.4864G= MANE Select NP_000325.4:p.Glu1622=
XM_005257566.3:c.4864G= XP_005257623.1:p.Glu1622=
Search 100 bp 5'
Search 100 bp 3'