Canonical Allele Identifier: CA400637832
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1376243
ClinVar RCV Id: RCV001911959
dbSNP Id: rs2144810270
gnomAD v4: 17-63968326-G-T
MyVariant Identifiers: chr17:g.62045686G>T (hg19) chr17:g.63968326G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63968326G>T , CM000679.2:g.63968326G>T GRCh38
NC_000017.10:g.62045686G>T , CM000679.1:g.62045686G>T GRCh37
NC_000017.9:g.59399418G>T NCBI36
NG_011699.1:g.9593C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.733C>A MANE Select ENSP00000396320.1:p.Gln245Lys
ENST00000578147.5:c.733C>A ENSP00000463963.1:p.Gln245Lys
NM_000334.4:c.733C>A MANE Select NP_000325.4:p.Gln245Lys
XM_005257566.3:c.733C>A XP_005257623.1:p.Gln245Lys
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