Canonical Allele Identifier: CA985438124
Gene: SCN4A HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971862_63971863insAAAA , CM000679.2:g.63971862_63971863insAAAA GRCh38
NC_000017.10:g.62049222_62049223insAAAA , CM000679.1:g.62049222_62049223insAAAA GRCh37
NC_000017.9:g.59402954_59402955insAAAA NCBI36
NG_011699.1:g.6057_6058insTTTT

Transcript Alleles

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