Canonical Allele Identifier: CA2270160772
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941094A= , CM000679.2:g.63941094A= GRCh38
NC_000017.10:g.62018454A= , CM000679.1:g.62018454A= GRCh37
NC_000017.9:g.59372186A= NCBI36
NG_011699.1:g.36825T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5188T= MANE Select ENSP00000396320.1:p.Cys1730=
ENST00000578147.5:c.5188T= ENSP00000463963.1:p.Cys1730=
NM_000334.4:c.5188T= MANE Select NP_000325.4:p.Cys1730=
XM_005257566.3:c.5188T= XP_005257623.1:p.Cys1730=
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