Canonical Allele Identifier: CA16044105
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945645_63945646insGC , CM000679.2:g.63945645_63945646insGC GRCh38
NC_000017.10:g.62023005_62023006insGC , CM000679.1:g.62023005_62023006insGC GRCh37
NC_000017.9:g.59376737_59376738insGC NCBI36
NG_011699.1:g.32273_32274insGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3442-8_3442-7insGC MANE Select ENSP00000396320.1:n.3442-8_3442-7insGC
ENST00000578147.5:c.3442-8_3442-7insGC ENSP00000463963.1:n.3442-8_3442-7insGC
NM_000334.4:c.3442-8_3442-7insGC MANE Select NP_000325.4:n.3442-8_3442-7insGC
XM_005257566.3:c.3442-8_3442-7insGC XP_005257623.1:n.3442-8_3442-7insGC
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