Canonical Allele Identifier: CA292959362
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs34513763
MyVariant Identifiers: chr17:g.62022079del (hg19) chr17:g.63944719del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944719del , CM000679.2:g.63944719del GRCh38
NC_000017.10:g.62022079del , CM000679.1:g.62022079del GRCh37
NC_000017.9:g.59375811del NCBI36
NG_011699.1:g.33200del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3866del MANE Select ENSP00000396320.1:p.Leu1289ProfsTer17
ENST00000578147.5:c.3866del ENSP00000463963.1:p.Leu1289ProfsTer17
NM_000334.4:c.3866del MANE Select NP_000325.4:p.Leu1289ProfsTer17
XM_005257566.3:c.3866del XP_005257623.1:p.Leu1289ProfsTer17
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