Canonical Allele Identifier: CA400626936
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 3234750
ClinVar RCV Id: RCV004547098
gnomAD v4: 17-63951776-C-A
MyVariant Identifiers: chr17:g.62029136C>A (hg19) chr17:g.63951776C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63951776C>A , CM000679.2:g.63951776C>A GRCh38
NC_000017.10:g.62029136C>A , CM000679.1:g.62029136C>A GRCh37
NC_000017.9:g.59382868C>A NCBI36
NG_011699.1:g.26143G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.2501G>T MANE Select ENSP00000396320.1:p.Gly834Val
ENST00000578147.5:c.2501G>T ENSP00000463963.1:p.Gly834Val
NM_000334.4:c.2501G>T MANE Select NP_000325.4:p.Gly834Val
XM_005257566.3:c.2501G>T XP_005257623.1:p.Gly834Val
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