Canonical Allele Identifier: CA400617372
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944747T>A , CM000679.2:g.63944747T>A GRCh38
NC_000017.10:g.62022107T>A , CM000679.1:g.62022107T>A GRCh37
NC_000017.9:g.59375839T>A NCBI36
NG_011699.1:g.33172A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3838A>T MANE Select ENSP00000396320.1:p.Ile1280Phe
ENST00000578147.5:c.3838A>T ENSP00000463963.1:p.Ile1280Phe
NM_000334.4:c.3838A>T MANE Select NP_000325.4:p.Ile1280Phe
XM_005257566.3:c.3838A>T XP_005257623.1:p.Ile1280Phe