Canonical Allele Identifier: CA627150693
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1909619186
gnomAD v2: 17-62049201-G-GGTCGCCGTATCATTAAAAAAAAA
gnomAD v3: 17-63971841-G-GGTCGCCGTATCATTAAAAAAAAA
gnomAD v4: 17-63971841-G-GGTCGCCGTATCATTAAAAAAAAA
MyVariant Identifiers: chr17:g.62049202_62049203delinsGTCGCCGTATCATTAAAAAAAAAAA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAA , CM000679.2:g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAA GRCh38
NC_000017.10:g.62049201_62049202insGTCGCCGTATCATTAAAAAAAAA , CM000679.1:g.62049201_62049202insGTCGCCGTATCATTAAAAAAAAA GRCh37
NC_000017.9:g.59402933_59402934insGTCGCCGTATCATTAAAAAAAAA NCBI36
NG_011699.1:g.6077_6078insTTTTTTTTTAATGATACGGCGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.491_492insTTTTTTTTTAATGATACGGCGAC MANE Select ENSP00000396320.1:p.Thr165PhefsTer?
ENST00000578147.5:c.491_492insTTTTTTTTTAATGATACGGCGAC ENSP00000463963.1:p.Thr165PhefsTer?
NM_000334.4:c.491_492insTTTTTTTTTAATGATACGGCGAC MANE Select NP_000325.4:p.Thr165PhefsTer?
XM_005257566.3:c.491_492insTTTTTTTTTAATGATACGGCGAC XP_005257623.1:p.Thr165PhefsTer?
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