Canonical Allele Identifier: CA400620516
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2422284
ClinVar RCV Id: RCV003119230
dbSNP Id: rs1157662598
gnomAD v2: 17-62024469-T-C
gnomAD v4: 17-63947109-T-C
MyVariant Identifiers: chr17:g.62024469T>C (hg19) chr17:g.63947109T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947109T>C , CM000679.2:g.63947109T>C GRCh38
NC_000017.10:g.62024469T>C , CM000679.1:g.62024469T>C GRCh37
NC_000017.9:g.59378201T>C NCBI36
NG_011699.1:g.30810A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.3377A>G MANE Select ENSP00000396320.1:p.Lys1126Arg
ENST00000578147.5:c.3377A>G ENSP00000463963.1:p.Lys1126Arg
NM_000334.4:c.3377A>G MANE Select NP_000325.4:p.Lys1126Arg
XM_005257566.3:c.3377A>G XP_005257623.1:p.Lys1126Arg
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