Canonical Allele Identifier: CA985436532
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v3: 17-63968334-GC-G
gnomAD v4: 17-63968334-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63968339del , CM000679.2:g.63968339del GRCh38
NC_000017.10:g.62045699del , CM000679.1:g.62045699del GRCh37
NC_000017.9:g.59399431del NCBI36
NG_011699.1:g.9584del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.724del MANE Select ENSP00000396320.1:p.Ala242ProfsTer2
ENST00000578147.5:c.724del ENSP00000463963.1:p.Ala242ProfsTer2
NM_000334.4:c.724del MANE Select NP_000325.4:p.Ala242ProfsTer2
XM_005257566.3:c.724del XP_005257623.1:p.Ala242ProfsTer2
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