Canonical Allele Identifier: CA400613176
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62018384A>T (hg19) chr17:g.63941024A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941024A>T , CM000679.2:g.63941024A>T GRCh38
NC_000017.10:g.62018384A>T , CM000679.1:g.62018384A>T GRCh37
NC_000017.9:g.59372116A>T NCBI36
NG_011699.1:g.36895T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5258T>A MANE Select ENSP00000396320.1:p.Met1753Lys
ENST00000578147.5:c.5258T>A ENSP00000463963.1:p.Met1753Lys
NM_000334.4:c.5258T>A MANE Select NP_000325.4:p.Met1753Lys
XM_005257566.3:c.5258T>A XP_005257623.1:p.Met1753Lys
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