Canonical Allele Identifier: CA2270161727
Gene: SCN4A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942979G= , CM000679.2:g.63942979G= GRCh38
NC_000017.10:g.62020339G= , CM000679.1:g.62020339G= GRCh37
NC_000017.9:g.59374071G= NCBI36
NG_011699.1:g.34940C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4135C= MANE Select ENSP00000396320.1:p.Gln1379=
ENST00000578147.5:c.4135C= ENSP00000463963.1:p.Gln1379=
NM_000334.4:c.4135C= MANE Select NP_000325.4:p.Gln1379=
XM_005257566.3:c.4135C= XP_005257623.1:p.Gln1379=
Search 100 bp 5'
Search 100 bp 3'