Canonical Allele Identifier: CA2270162953
Gene: SCN4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945289G= , CM000679.2:g.63945289G= GRCh38
NC_000017.10:g.62022649G= , CM000679.1:g.62022649G= GRCh37
NC_000017.9:g.59376381G= NCBI36
NG_011699.1:g.32630C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3720+71C= MANE Select ENSP00000396320.1:n.3720+71C=
ENST00000578147.5:c.3720+71C= ENSP00000463963.1:n.3720+71C=
NM_000334.4:c.3720+71C= MANE Select NP_000325.4:n.3720+71C=
XM_005257566.3:c.3720+71C= XP_005257623.1:n.3720+71C=