Canonical Allele Identifier: CA400620576
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2810383
ClinVar RCV Id: RCV003616272
MyVariant Identifiers: chr17:g.62024478C>T (hg19) chr17:g.63947118C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947118C>T , CM000679.2:g.63947118C>T GRCh38
NC_000017.10:g.62024478C>T , CM000679.1:g.62024478C>T GRCh37
NC_000017.9:g.59378210C>T NCBI36
NG_011699.1:g.30801G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3368G>A MANE Select ENSP00000396320.1:p.Gly1123Glu
ENST00000578147.5:c.3368G>A ENSP00000463963.1:p.Gly1123Glu
NM_000334.4:c.3368G>A MANE Select NP_000325.4:p.Gly1123Glu
XM_005257566.3:c.3368G>A XP_005257623.1:p.Gly1123Glu
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