Canonical Allele Identifier: CA2270160798
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941143C= , CM000679.2:g.63941143C= GRCh38
NC_000017.10:g.62018503C= , CM000679.1:g.62018503C= GRCh37
NC_000017.9:g.59372235C= NCBI36
NG_011699.1:g.36776G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5139G= MANE Select ENSP00000396320.1:p.Val1713=
ENST00000578147.5:c.5139G= ENSP00000463963.1:p.Val1713=
NM_000334.4:c.5139G= MANE Select NP_000325.4:p.Val1713=
XM_005257566.3:c.5139G= XP_005257623.1:p.Val1713=
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