Canonical Allele Identifier: CA985438123
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v3: 17-63971861-G-GAAA
gnomAD v4: 17-63971861-G-GAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971862_63971863insAAA , CM000679.2:g.63971862_63971863insAAA GRCh38
NC_000017.10:g.62049222_62049223insAAA , CM000679.1:g.62049222_62049223insAAA GRCh37
NC_000017.9:g.59402954_59402955insAAA NCBI36
NG_011699.1:g.6057_6058insTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.483-12_483-11insTTT MANE Select ENSP00000396320.1:n.483-12_483-11insTTT
ENST00000578147.5:c.483-12_483-11insTTT ENSP00000463963.1:n.483-12_483-11insTTT
NM_000334.4:c.483-12_483-11insTTT MANE Select NP_000325.4:n.483-12_483-11insTTT
XM_005257566.3:c.483-12_483-11insTTT XP_005257623.1:n.483-12_483-11insTTT
Search 100 bp 5'
Search 100 bp 3'