Canonical Allele Identifier: CA501349153
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62038697G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961337G>A , CM000679.2:g.63961337G>A GRCh38
NC_000017.10:g.62038697G>A , CM000679.1:g.62038697G>A GRCh37
NC_000017.9:g.59392429G>A NCBI36
NG_011699.1:g.16582C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.1701C>T MANE Select ENSP00000396320.1:p.Phe567=
ENST00000578147.5:c.1701C>T ENSP00000463963.1:p.Phe567=
ENST00000581514.1:n.357C>T
NM_000334.4:c.1701C>T MANE Select NP_000325.4:p.Phe567=
XM_005257566.3:c.1701C>T XP_005257623.1:p.Phe567=
XR_934910.1:n.124+615G>A
XR_001752969.1:n.1276+615G>A
XR_934910.2:n.1276+615G>A
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