Canonical Allele Identifier: CA2596764813
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v3: 17-63947013-CAGCCCA-C
gnomAD v4: 17-63947013-CAGCCCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947014_63947019del , CM000679.2:g.63947014_63947019del GRCh38
NC_000017.10:g.62024374_62024379del , CM000679.1:g.62024374_62024379del GRCh37
NC_000017.9:g.59378106_59378111del NCBI36
NG_011699.1:g.30900_30905del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3441+26_3441+31del MANE Select ENSP00000396320.1:n.3441+26_3441+31del
ENST00000578147.5:c.3441+26_3441+31del ENSP00000463963.1:n.3441+26_3441+31del
NM_000334.4:c.3441+26_3441+31del MANE Select NP_000325.4:n.3441+26_3441+31del
XM_005257566.3:c.3441+26_3441+31del XP_005257623.1:n.3441+26_3441+31del
Search 100 bp 5'
Search 100 bp 3'