Canonical Allele Identifier: CA2810127427
Gene: SCN4A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944711del , CM000679.2:g.63944711del GRCh38
NC_000017.10:g.62022071del , CM000679.1:g.62022071del GRCh37
NC_000017.9:g.59375803del NCBI36
NG_011699.1:g.33209del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3875del MANE Select ENSP00000396320.1:p.Gly1292AlafsTer14
ENST00000578147.5:c.3875del ENSP00000463963.1:p.Gly1292AlafsTer14
NM_000334.4:c.3875del MANE Select NP_000325.4:p.Gly1292AlafsTer14
XM_005257566.3:c.3875del XP_005257623.1:p.Gly1292AlafsTer14
Search 100 bp 5'
Search 100 bp 3'