Canonical Allele Identifier: CA400615938
Gene: SCN4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941803C>A , CM000679.2:g.63941803C>A GRCh38
NC_000017.10:g.62019163C>A , CM000679.1:g.62019163C>A GRCh37
NC_000017.9:g.59372895C>A NCBI36
NG_011699.1:g.36116G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4479G>T MANE Select ENSP00000396320.1:p.Met1493Ile
ENST00000578147.5:c.4479G>T ENSP00000463963.1:p.Met1493Ile
NM_000334.4:c.4479G>T MANE Select NP_000325.4:p.Met1493Ile
XM_005257566.3:c.4479G>T XP_005257623.1:p.Met1493Ile