Canonical Allele Identifier: CA292957365
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 448280
ClinVar RCV Id: RCV000532008 RCV002305499 RCV002267617 RCV002473036
dbSNP Id: rs748517635
gnomAD v4: 17-63941930-C-T
MyVariant Identifiers: chr17:g.62019290C>T (hg19) chr17:g.63941930C>T (hg38)
PubMed: PMID:27922499
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941930C>T , CM000679.2:g.63941930C>T GRCh38
NC_000017.10:g.62019290C>T , CM000679.1:g.62019290C>T GRCh37
NC_000017.9:g.59373022C>T NCBI36
NG_011699.1:g.35989G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4352G>A MANE Select ENSP00000396320.1:p.Arg1451His
ENST00000578147.5:c.4352G>A ENSP00000463963.1:p.Arg1451His
NM_000334.4:c.4352G>A MANE Select NP_000325.4:p.Arg1451His
XM_005257566.3:c.4352G>A XP_005257623.1:p.Arg1451His
Search 100 bp 5'
Search 100 bp 3'