Canonical Allele Identifier: CA2270160964
Gene: SCN4A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941496T= , CM000679.2:g.63941496T= GRCh38
NC_000017.10:g.62018856T= , CM000679.1:g.62018856T= GRCh37
NC_000017.9:g.59372588T= NCBI36
NG_011699.1:g.36423A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4786A= MANE Select ENSP00000396320.1:p.Ile1596=
ENST00000578147.5:c.4786A= ENSP00000463963.1:p.Ile1596=
NM_000334.4:c.4786A= MANE Select NP_000325.4:p.Ile1596=
XM_005257566.3:c.4786A= XP_005257623.1:p.Ile1596=
Search 100 bp 5'
Search 100 bp 3'