Canonical Allele Identifier: CA2270161679
Gene: SCN4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942844C= , CM000679.2:g.63942844C= GRCh38
NC_000017.10:g.62020204C= , CM000679.1:g.62020204C= GRCh37
NC_000017.9:g.59373936C= NCBI36
NG_011699.1:g.35075G=

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4270G= MANE Select ENSP00000396320.1:p.Val1424=
ENST00000578147.5:c.4270G= ENSP00000463963.1:p.Val1424=
NM_000334.4:c.4270G= MANE Select NP_000325.4:p.Val1424=
XM_005257566.3:c.4270G= XP_005257623.1:p.Val1424=