Canonical Allele Identifier: CA2639311495
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63972041-TC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972044del , CM000679.2:g.63972044del GRCh38
NC_000017.10:g.62049404del , CM000679.1:g.62049404del GRCh37
NC_000017.9:g.59403136del NCBI36
NG_011699.1:g.5877del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.482+94del MANE Select ENSP00000396320.1:n.482+94del
ENST00000578147.5:c.482+94del ENSP00000463963.1:n.482+94del
NM_000334.4:c.482+94del MANE Select NP_000325.4:n.482+94del
XM_005257566.3:c.482+94del XP_005257623.1:n.482+94del
Search 100 bp 5'
Search 100 bp 3'