Canonical Allele Identifier: CA400613370
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2689920
ClinVar RCV Id: RCV003491441
MyVariant Identifiers: chr17:g.62018420T>C (hg19) chr17:g.63941060T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941060T>C , CM000679.2:g.63941060T>C GRCh38
NC_000017.10:g.62018420T>C , CM000679.1:g.62018420T>C GRCh37
NC_000017.9:g.59372152T>C NCBI36
NG_011699.1:g.36859A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5222A>G MANE Select ENSP00000396320.1:p.His1741Arg
ENST00000578147.5:c.5222A>G ENSP00000463963.1:p.His1741Arg
NM_000334.4:c.5222A>G MANE Select NP_000325.4:p.His1741Arg
XM_005257566.3:c.5222A>G XP_005257623.1:p.His1741Arg
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