Canonical Allele Identifier: CA400617872
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62022811T>A (hg19) chr17:g.63945451T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945451T>A , CM000679.2:g.63945451T>A GRCh38
NC_000017.10:g.62022811T>A , CM000679.1:g.62022811T>A GRCh37
NC_000017.9:g.59376543T>A NCBI36
NG_011699.1:g.32468A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3629A>T MANE Select ENSP00000396320.1:p.Glu1210Val
ENST00000578147.5:c.3629A>T ENSP00000463963.1:p.Glu1210Val
NM_000334.4:c.3629A>T MANE Select NP_000325.4:p.Glu1210Val
XM_005257566.3:c.3629A>T XP_005257623.1:p.Glu1210Val
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