Canonical Allele Identifier: CA501348661
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2996701
ClinVar RCV Id: RCV003858836
MyVariant Identifiers: chr17:g.62022849C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945489C>T , CM000679.2:g.63945489C>T GRCh38
NC_000017.10:g.62022849C>T , CM000679.1:g.62022849C>T GRCh37
NC_000017.9:g.59376581C>T NCBI36
NG_011699.1:g.32430G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3591G>A MANE Select ENSP00000396320.1:p.Arg1197=
ENST00000578147.5:c.3591G>A ENSP00000463963.1:p.Arg1197=
NM_000334.4:c.3591G>A MANE Select NP_000325.4:p.Arg1197=
XM_005257566.3:c.3591G>A XP_005257623.1:p.Arg1197=
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