Canonical Allele Identifier: CA400633363
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62038676G>C (hg19) chr17:g.63961316G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961316G>C , CM000679.2:g.63961316G>C GRCh38
NC_000017.10:g.62038676G>C , CM000679.1:g.62038676G>C GRCh37
NC_000017.9:g.59392408G>C NCBI36
NG_011699.1:g.16603C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1722C>G MANE Select ENSP00000396320.1:p.Ile574Met
ENST00000578147.5:c.1722C>G ENSP00000463963.1:p.Ile574Met
ENST00000581514.1:n.378C>G
NM_000334.4:c.1722C>G MANE Select NP_000325.4:p.Ile574Met
XM_005257566.3:c.1722C>G XP_005257623.1:p.Ile574Met
XR_934910.1:n.124+594G>C
XR_001752969.1:n.1276+594G>C
XR_934910.2:n.1276+594G>C
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