Canonical Allele Identifier: CA2270163803
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947150C= , CM000679.2:g.63947150C= GRCh38
NC_000017.10:g.62024510C= , CM000679.1:g.62024510C= GRCh37
NC_000017.9:g.59378242C= NCBI36
NG_011699.1:g.30769G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3336G= MANE Select ENSP00000396320.1:p.Leu1112=
ENST00000578147.5:c.3336G= ENSP00000463963.1:p.Leu1112=
NM_000334.4:c.3336G= MANE Select NP_000325.4:p.Leu1112=
XM_005257566.3:c.3336G= XP_005257623.1:p.Leu1112=
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