Canonical Allele Identifier: CA2639308312
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63942837-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942839del , CM000679.2:g.63942839del GRCh38
NC_000017.10:g.62020199del , CM000679.1:g.62020199del GRCh37
NC_000017.9:g.59373931del NCBI36
NG_011699.1:g.35081del

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4276del MANE Select ENSP00000396320.1:p.Leu1426CysfsTer11
ENST00000578147.5:c.4276del ENSP00000463963.1:p.Leu1426CysfsTer11
NM_000334.4:c.4276del MANE Select NP_000325.4:p.Leu1426CysfsTer11
XM_005257566.3:c.4276del XP_005257623.1:p.Leu1426CysfsTer11
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