Canonical Allele Identifier: CA2270161211
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941990A= , CM000679.2:g.63941990A= GRCh38
NC_000017.10:g.62019350A= , CM000679.1:g.62019350A= GRCh37
NC_000017.9:g.59373082A= NCBI36
NG_011699.1:g.35929T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4292T= MANE Select ENSP00000396320.1:p.Leu1431=
ENST00000578147.5:c.4292T= ENSP00000463963.1:p.Leu1431=
NM_000334.4:c.4292T= MANE Select NP_000325.4:p.Leu1431=
XM_005257566.3:c.4292T= XP_005257623.1:p.Leu1431=
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