Canonical Allele Identifier: CA627150698
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v2: 17-62049210-CCTGGGGGGGAGAGG-C
gnomAD v4: 17-63971850-CCTGGGGGGGAGAGG-C
MyVariant Identifiers: chr17:g.62049211_62049224del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971851_63971864del , CM000679.2:g.63971851_63971864del GRCh38
NC_000017.10:g.62049211_62049224del , CM000679.1:g.62049211_62049224del GRCh37
NC_000017.9:g.59402943_59402956del NCBI36
NG_011699.1:g.6055_6068del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.483-14_483-1del MANE Select ENSP00000396320.1:n.483-14_483-1del
ENST00000578147.5:c.483-14_483-1del ENSP00000463963.1:n.483-14_483-1del
NM_000334.4:c.483-14_483-1del MANE Select NP_000325.4:n.483-14_483-1del
XM_005257566.3:c.483-14_483-1del XP_005257623.1:n.483-14_483-1del
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