Canonical Allele Identifier: CA2270160837
Gene: SCN4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941231G= , CM000679.2:g.63941231G= GRCh38
NC_000017.10:g.62018591G= , CM000679.1:g.62018591G= GRCh37
NC_000017.9:g.59372323G= NCBI36
NG_011699.1:g.36688C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5051C= MANE Select ENSP00000396320.1:p.Thr1684=
ENST00000578147.5:c.5051C= ENSP00000463963.1:p.Thr1684=
NM_000334.4:c.5051C= MANE Select NP_000325.4:p.Thr1684=
XM_005257566.3:c.5051C= XP_005257623.1:p.Thr1684=