Canonical Allele Identifier: CA2639310794
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63971871-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971874dup , CM000679.2:g.63971874dup GRCh38
NC_000017.10:g.62049234dup , CM000679.1:g.62049234dup GRCh37
NC_000017.9:g.59402966dup NCBI36
NG_011699.1:g.6047dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.483-22dup MANE Select ENSP00000396320.1:n.483-22dup
ENST00000578147.5:c.483-22dup ENSP00000463963.1:n.483-22dup
NM_000334.4:c.483-22dup MANE Select NP_000325.4:n.483-22dup
XM_005257566.3:c.483-22dup XP_005257623.1:n.483-22dup
Search 100 bp 5'
Search 100 bp 3'