Canonical Allele Identifier: CA2596764814
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v3: 17-63947023-CAG-C
gnomAD v4: 17-63947023-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947026_63947027del , CM000679.2:g.63947026_63947027del GRCh38
NC_000017.10:g.62024386_62024387del , CM000679.1:g.62024386_62024387del GRCh37
NC_000017.9:g.59378118_59378119del NCBI36
NG_011699.1:g.30894_30895del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3441+20_3441+21del MANE Select ENSP00000396320.1:n.3441+20_3441+21del
ENST00000578147.5:c.3441+20_3441+21del ENSP00000463963.1:n.3441+20_3441+21del
NM_000334.4:c.3441+20_3441+21del MANE Select NP_000325.4:n.3441+20_3441+21del
XM_005257566.3:c.3441+20_3441+21del XP_005257623.1:n.3441+20_3441+21del
Search 100 bp 5'
Search 100 bp 3'