Canonical Allele Identifier: CA400630216
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2435752
ClinVar RCV Id: RCV003136502
dbSNP Id: rs1326397511
gnomAD v3: 17-63957334-A-C
gnomAD v4: 17-63957334-A-C
MyVariant Identifiers: chr17:g.62034694A>C (hg19) chr17:g.63957334A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63957334A>C , CM000679.2:g.63957334A>C GRCh38
NC_000017.10:g.62034694A>C , CM000679.1:g.62034694A>C GRCh37
NC_000017.9:g.59388426A>C NCBI36
NG_011699.1:g.20585T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.2204T>G MANE Select ENSP00000396320.1:p.Leu735Trp
ENST00000578147.5:c.2204T>G ENSP00000463963.1:p.Leu735Trp
NM_000334.4:c.2204T>G MANE Select NP_000325.4:p.Leu735Trp
XM_005257566.3:c.2204T>G XP_005257623.1:p.Leu735Trp
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