Canonical Allele Identifier: CA400633021
Community Standard Title: NM_000334.4(SCN4A):c.1775C>T (p.Thr592Ile)
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961263G>A , CM000679.2:g.63961263G>A GRCh38
NC_000017.10:g.62038623G>A , CM000679.1:g.62038623G>A GRCh37
NC_000017.9:g.59392355G>A NCBI36
NG_011699.1:g.16656C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000334.4:c.1775C>T MANE Select NP_000325.4:p.Thr592Ile
ENST00000435607.3:c.1775C>T MANE Select ENSP00000396320.1:p.Thr592Ile
ENST00000578147.5:c.1775C>T ENSP00000463963.1:p.Thr592Ile
ENST00000581514.1:n.431C>T
XM_005257566.3:c.1775C>T XP_005257623.1:p.Thr592Ile
XR_001752969.1:n.1276+541G>A
XR_934910.1:n.124+541G>A
XR_934910.2:n.1276+541G>A
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