Canonical Allele Identifier: CA2639311483
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63972032-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972033del , CM000679.2:g.63972033del GRCh38
NC_000017.10:g.62049393del , CM000679.1:g.62049393del GRCh37
NC_000017.9:g.59403125del NCBI36
NG_011699.1:g.5886del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.482+103del MANE Select ENSP00000396320.1:n.482+103del
ENST00000578147.5:c.482+103del ENSP00000463963.1:n.482+103del
NM_000334.4:c.482+103del MANE Select NP_000325.4:n.482+103del
XM_005257566.3:c.482+103del XP_005257623.1:n.482+103del
Search 100 bp 5'
Search 100 bp 3'