Canonical Allele Identifier: CA400633667
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs866837066
gnomAD v2: 17-62038724-C-G
MyVariant Identifiers: chr17:g.62038724C>G (hg19) chr17:g.63961364C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961364C>G , CM000679.2:g.63961364C>G GRCh38
NC_000017.10:g.62038724C>G , CM000679.1:g.62038724C>G GRCh37
NC_000017.9:g.59392456C>G NCBI36
NG_011699.1:g.16555G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1674G>C MANE Select ENSP00000396320.1:p.Trp558Cys
ENST00000578147.5:c.1674G>C ENSP00000463963.1:p.Trp558Cys
ENST00000581514.1:n.330G>C
NM_000334.4:c.1674G>C MANE Select NP_000325.4:p.Trp558Cys
XM_005257566.3:c.1674G>C XP_005257623.1:p.Trp558Cys
XR_934910.1:n.124+642C>G
XR_001752969.1:n.1276+642C>G
XR_934910.2:n.1276+642C>G
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