Canonical Allele Identifier: CA8708962
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs774300654
ExAC: 17:62019201 C / CTTTG
gnomAD v2: 17-62019201-C-CTTTG
MyVariant Identifiers: chr17:g.62019201_62019202insTTTG (hg19) chr17:g.63941841_63941842insTTTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941841_63941842insTTTG , CM000679.2:g.63941841_63941842insTTTG GRCh38
NC_000017.10:g.62019201_62019202insTTTG , CM000679.1:g.62019201_62019202insTTTG GRCh37
NC_000017.9:g.59372933_59372934insTTTG NCBI36
NG_011699.1:g.36077_36078insCAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4440_4441insCAAA MANE Select ENSP00000396320.1:p.Ala1481GlnfsTer?
ENST00000578147.5:c.4440_4441insCAAA ENSP00000463963.1:p.Ala1481GlnfsTer?
NM_000334.4:c.4440_4441insCAAA MANE Select NP_000325.4:p.Ala1481GlnfsTer?
XM_005257566.3:c.4440_4441insCAAA XP_005257623.1:p.Ala1481GlnfsTer?
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