Canonical Allele Identifier: CA627150690

Gene: SCN4A

Linked Data

• gnomAD v2: 17-62049201-G-GGTCGCCGTATCATTAAAAA
• gnomAD v3: 17-63971841-G-GGTCGCCGTATCATTAAAAA
• gnomAD v4: 17-63971841-G-GGTCGCCGTATCATTAAAAA
• MyVariant Identifiers: chr17:g.62049201_62049202insGTCGCCGTATCATTAAAAA (hg19) ; chr17:g.62049202_62049203delinsGTCGCCGTATCATTAAAAAAA (hg19) ; chr17:g.63971841_63971842insGTCGCCGTATCATTAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63971841_63971842insGTCGCCGTATCATTAAAAA , CM000679.2:g.63971841_63971842insGTCGCCGTATCATTAAAAA	GRCh38
NC_000017.10:g.62049201_62049202insGTCGCCGTATCATTAAAAA , CM000679.1:g.62049201_62049202insGTCGCCGTATCATTAAAAA	GRCh37
NC_000017.9:g.59402933_59402934insGTCGCCGTATCATTAAAAA	NCBI36
NG_011699.1:g.6077_6078insTTTTTAATGATACGGCGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.491_492insTTTTTAATGATACGGCGAC MANE Select	ENSP00000396320.1:p.Thr165PhefsTer2
ENST00000578147.5:c.491_492insTTTTTAATGATACGGCGAC	ENSP00000463963.1:p.Thr165PhefsTer2
NM_000334.4:c.491_492insTTTTTAATGATACGGCGAC MANE Select	NP_000325.4:p.Thr165PhefsTer2
XM_005257566.3:c.491_492insTTTTTAATGATACGGCGAC	XP_005257623.1:p.Thr165PhefsTer2