Canonical Allele Identifier: CA400614480
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941335T>A , CM000679.2:g.63941335T>A GRCh38
NC_000017.10:g.62018695T>A , CM000679.1:g.62018695T>A GRCh37
NC_000017.9:g.59372427T>A NCBI36
NG_011699.1:g.36584A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4947A>T MANE Select ENSP00000396320.1:p.Glu1649Asp
ENST00000578147.5:c.4947A>T ENSP00000463963.1:p.Glu1649Asp
NM_000334.4:c.4947A>T MANE Select NP_000325.4:p.Glu1649Asp
XM_005257566.3:c.4947A>T XP_005257623.1:p.Glu1649Asp