Canonical Allele Identifier: CA501214163
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs981527515
gnomAD v3: 17-63942303-CAGAG-C
gnomAD v4: 17-63942303-CAGAG-C
MyVariant Identifiers: chr17:g.62019664_62019667del (hg19) chr17:g.63942304_63942307del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942313_63942316del , CM000679.2:g.63942313_63942316del GRCh38
NC_000017.10:g.62019673_62019676del , CM000679.1:g.62019673_62019676del GRCh37
NC_000017.9:g.59373405_59373408del NCBI36
NG_011699.1:g.35612_35615del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4289-314_4289-311del MANE Select ENSP00000396320.1:n.4289-314_4289-311del
ENST00000578147.5:c.4289-314_4289-311del ENSP00000463963.1:n.4289-314_4289-311del
NM_000334.4:c.4289-314_4289-311del MANE Select NP_000325.4:n.4289-314_4289-311del
XM_005257566.3:c.4289-314_4289-311del XP_005257623.1:n.4289-314_4289-311del
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