Canonical Allele Identifier: CA8708743
Gene: SCN4A HGNC NCBI
ClinVar RCV:
RCV000602775
RCV000876059
RCV001079138
RCV002528600
ClinVar Variation:
514878
dbSNP:
376833596
gnomAD v2:
17:62018174 G / C
gnomAD v3:
17:63940814 G / C
gnomAD v4:
chr17-63940814-G-C
Joint Max Group AF 0.00319365 (EAS)
Genomes Max Group AF 0.00359726 (SAS)
Exomes Max Group AF 0.00323398 (EAS)
MyVariant.info:
GRCh38 chr17:g.63940814G>C
GRCh37 chr17:g.62018174G>C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63940814G>C , CM000679.2:g.63940814G>C GRCh38
NC_000017.10:g.62018174G>C , CM000679.1:g.62018174G>C GRCh37
NC_000017.9:g.59371906G>C NCBI36
NG_011699.1:g.37105C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5468C>G MANE Select ENSP00000396320.1:p.Pro1823Arg
ENST00000578147.5:c.5468C>G ENSP00000463963.1:p.Pro1823Arg
NM_000334.4:c.5468C>G MANE Select NP_000325.4:p.Pro1823Arg
XM_005257566.3:c.5468C>G XP_005257623.1:p.Pro1823Arg
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