Canonical Allele Identifier: CA2270160962
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941488C= , CM000679.2:g.63941488C= GRCh38
NC_000017.10:g.62018848C= , CM000679.1:g.62018848C= GRCh37
NC_000017.9:g.59372580C= NCBI36
NG_011699.1:g.36431G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4794G= MANE Select ENSP00000396320.1:p.Leu1598=
ENST00000578147.5:c.4794G= ENSP00000463963.1:p.Leu1598=
NM_000334.4:c.4794G= MANE Select NP_000325.4:p.Leu1598=
XM_005257566.3:c.4794G= XP_005257623.1:p.Leu1598=
Search 100 bp 5'
Search 100 bp 3'