Canonical Allele Identifier: CA2270175610
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1909623617
gnomAD v4: 17-63971917-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971922del , CM000679.2:g.63971922del GRCh38
NC_000017.10:g.62049282del , CM000679.1:g.62049282del GRCh37
NC_000017.9:g.59403014del NCBI36
NG_011699.1:g.6001del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.483-68del MANE Select ENSP00000396320.1:n.483-68del
ENST00000578147.5:c.483-68del ENSP00000463963.1:n.483-68del
NM_000334.4:c.483-68del MANE Select NP_000325.4:n.483-68del
XM_005257566.3:c.483-68del XP_005257623.1:n.483-68del
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