Canonical Allele Identifier: CA2270160776
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1908511906
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941101_63941103del , CM000679.2:g.63941101_63941103del GRCh38
NC_000017.10:g.62018461_62018463del , CM000679.1:g.62018461_62018463del GRCh37
NC_000017.9:g.59372193_59372195del NCBI36
NG_011699.1:g.36820_36822del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5183_5185del MANE Select ENSP00000396320.1:p.Glu1728del
ENST00000578147.5:c.5183_5185del ENSP00000463963.1:p.Glu1728del
NM_000334.4:c.5183_5185del MANE Select NP_000325.4:p.Glu1728del
XM_005257566.3:c.5183_5185del XP_005257623.1:p.Glu1728del
Search 100 bp 5'
Search 100 bp 3'