Canonical Allele Identifier: CA2639307841
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63942051-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942055del , CM000679.2:g.63942055del GRCh38
NC_000017.10:g.62019415del , CM000679.1:g.62019415del GRCh37
NC_000017.9:g.59373147del NCBI36
NG_011699.1:g.35867del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4289-59del MANE Select ENSP00000396320.1:n.4289-59del
ENST00000578147.5:c.4289-59del ENSP00000463963.1:n.4289-59del
NM_000334.4:c.4289-59del MANE Select NP_000325.4:n.4289-59del
XM_005257566.3:c.4289-59del XP_005257623.1:n.4289-59del
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Search 100 bp 3'