Canonical Allele Identifier: CA400615176
Gene: SCN4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.62018910A>C (hg19) chr17:g.63941550A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941550A>C , CM000679.2:g.63941550A>C GRCh38
NC_000017.10:g.62018910A>C , CM000679.1:g.62018910A>C GRCh37
NC_000017.9:g.59372642A>C NCBI36
NG_011699.1:g.36369T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4732T>G MANE Select ENSP00000396320.1:p.Phe1578Val
ENST00000578147.5:c.4732T>G ENSP00000463963.1:p.Phe1578Val
NM_000334.4:c.4732T>G MANE Select NP_000325.4:p.Phe1578Val
XM_005257566.3:c.4732T>G XP_005257623.1:p.Phe1578Val
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