Canonical Allele Identifier: CA8709223
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs756300055
ExAC: 17:62022822 CTTG / C
gnomAD v2: 17-62022822-CTTG-C
gnomAD v4: 17-63945462-CTTG-C
MyVariant Identifiers: chr17:g.62022823_62022825del (hg19) chr17:g.63945464_63945466del (hg38) chr17:g.63945463_63945465del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945469_63945471del , CM000679.2:g.63945469_63945471del GRCh38
NC_000017.10:g.62022829_62022831del , CM000679.1:g.62022829_62022831del GRCh37
NC_000017.9:g.59376561_59376563del NCBI36
NG_011699.1:g.32454_32456del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3615_3617del MANE Select ENSP00000396320.1:p.Asn1205del
ENST00000578147.5:c.3615_3617del ENSP00000463963.1:p.Asn1205del
NM_000334.4:c.3615_3617del MANE Select NP_000325.4:p.Asn1205del
XM_005257566.3:c.3615_3617del XP_005257623.1:p.Asn1205del
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