Canonical Allele Identifier: CA2270161137
Gene: SCN4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941855A= , CM000679.2:g.63941855A= GRCh38
NC_000017.10:g.62019215A= , CM000679.1:g.62019215A= GRCh37
NC_000017.9:g.59372947A= NCBI36
NG_011699.1:g.36064T=

Transcript Alleles

HGVS Amino-acid Change
NM_000334.4:c.4427T= MANE Select NP_000325.4:p.Met1476=
ENST00000435607.3:c.4427T= MANE Select ENSP00000396320.1:p.Met1476=
ENST00000578147.5:c.4427T= ENSP00000463963.1:p.Met1476=
XM_005257566.3:c.4427T= XP_005257623.1:p.Met1476=