Canonical Allele Identifier: CA16620556
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 420227
ClinVar RCV Id: RCV000486478
dbSNP Id: rs1555603364
MyVariant Identifiers: chr17:g.62036643_62036648dupCACAGA (hg19) chr17:g.62036642_62036643insCACAGA (hg19) chr17:g.63959283_63959288dupCACAGA (hg38) chr17:g.63959282_63959283insCACAGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63959285_63959290dup , CM000679.2:g.63959285_63959290dup GRCh38
NC_000017.10:g.62036645_62036650dup , CM000679.1:g.62036645_62036650dup GRCh37
NC_000017.9:g.59390377_59390382dup NCBI36
NG_011699.1:g.18631_18636dup

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.1996_2001dup MANE Select ENSP00000396320.1:p.Val667_Leu668insSerVa...
ENST00000578147.5:c.1996_2001dup ENSP00000463963.1:p.Val667_Leu668insSerVa...
NM_000334.4:c.1996_2001dup MANE Select NP_000325.4:p.Val667_Leu668insSerVal
XM_005257566.3:c.1996_2001dup XP_005257623.1:p.Val667_Leu668insSerVal
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