Canonical Allele Identifier: CA8709298
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1256463
ClinVar RCV Id: RCV001663805
dbSNP Id: rs764409572
ExAC: 17:62024510 C / G
gnomAD v2: 17-62024510-C-G
gnomAD v4: 17-63947150-C-G
MyVariant Identifiers: chr17:g.62024510C>G (hg19) chr17:g.63947150C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947150C>G , CM000679.2:g.63947150C>G GRCh38
NC_000017.10:g.62024510C>G , CM000679.1:g.62024510C>G GRCh37
NC_000017.9:g.59378242C>G NCBI36
NG_011699.1:g.30769G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3336G>C MANE Select ENSP00000396320.1:p.Leu1112Phe
ENST00000578147.5:c.3336G>C ENSP00000463963.1:p.Leu1112Phe
NM_000334.4:c.3336G>C MANE Select NP_000325.4:p.Leu1112Phe
XM_005257566.3:c.3336G>C XP_005257623.1:p.Leu1112Phe
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