Canonical Allele Identifier: CA292957261
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 949090
ClinVar RCV Id: RCV001220478 RCV002504276
dbSNP Id: rs962610601
gnomAD v3: 17-63941876-C-T
gnomAD v4: 17-63941876-C-T
MyVariant Identifiers: chr17:g.62019236C>T (hg19) chr17:g.63941876C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941876C>T , CM000679.2:g.63941876C>T GRCh38
NC_000017.10:g.62019236C>T , CM000679.1:g.62019236C>T GRCh37
NC_000017.9:g.59372968C>T NCBI36
NG_011699.1:g.36043G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4406G>A MANE Select ENSP00000396320.1:p.Arg1469Gln
ENST00000578147.5:c.4406G>A ENSP00000463963.1:p.Arg1469Gln
NM_000334.4:c.4406G>A MANE Select NP_000325.4:p.Arg1469Gln
XM_005257566.3:c.4406G>A XP_005257623.1:p.Arg1469Gln
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