Canonical Allele Identifier: CA292957596
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1243328
ClinVar RCV Id: RCV001644227
dbSNP Id: rs58036769
gnomAD v2: 17-62019618-GGTGTGTGTGTGTGT-G
gnomAD v3: 17-63942258-GGTGTGTGTGTGTGT-G
gnomAD v4: 17-63942258-GGTGTGTGTGTGTGT-G
MyVariant Identifiers: chr17:g.62019619_62019632del (hg19) chr17:g.63942259_63942272del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942282_63942295del , CM000679.2:g.63942282_63942295del GRCh38
NC_000017.10:g.62019642_62019655del , CM000679.1:g.62019642_62019655del GRCh37
NC_000017.9:g.59373374_59373387del NCBI36
NG_011699.1:g.35647_35660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4289-279_4289-266del MANE Select ENSP00000396320.1:n.4289-279_4289-266del
ENST00000578147.5:c.4289-279_4289-266del ENSP00000463963.1:n.4289-279_4289-266del
NM_000334.4:c.4289-279_4289-266del MANE Select NP_000325.4:n.4289-279_4289-266del
XM_005257566.3:c.4289-279_4289-266del XP_005257623.1:n.4289-279_4289-266del
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