Canonical Allele Identifier: CA400613990
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 941521
ClinVar RCV Id: RCV001211315
dbSNP Id: rs1908515104
MyVariant Identifiers: chr17:g.62018527G>T (hg19) chr17:g.63941167G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941167G>T , CM000679.2:g.63941167G>T GRCh38
NC_000017.10:g.62018527G>T , CM000679.1:g.62018527G>T GRCh37
NC_000017.9:g.59372259G>T NCBI36
NG_011699.1:g.36752C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5115C>A MANE Select ENSP00000396320.1:p.Phe1705Leu
ENST00000578147.5:c.5115C>A ENSP00000463963.1:p.Phe1705Leu
NM_000334.4:c.5115C>A MANE Select NP_000325.4:p.Phe1705Leu
XM_005257566.3:c.5115C>A XP_005257623.1:p.Phe1705Leu
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