Canonical Allele Identifier: CA400614964
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62018849A>T (hg19) chr17:g.63941489A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941489A>T , CM000679.2:g.63941489A>T GRCh38
NC_000017.10:g.62018849A>T , CM000679.1:g.62018849A>T GRCh37
NC_000017.9:g.59372581A>T NCBI36
NG_011699.1:g.36430T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4793T>A MANE Select ENSP00000396320.1:p.Leu1598Gln
ENST00000578147.5:c.4793T>A ENSP00000463963.1:p.Leu1598Gln
NM_000334.4:c.4793T>A MANE Select NP_000325.4:p.Leu1598Gln
XM_005257566.3:c.4793T>A XP_005257623.1:p.Leu1598Gln
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