Canonical Allele Identifier: CA400616554
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1351041628
gnomAD v4: 17-63942937-T-G
MyVariant Identifiers: chr17:g.62020297T>G (hg19) chr17:g.63942937T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63942937T>G , CM000679.2:g.63942937T>G GRCh38
NC_000017.10:g.62020297T>G , CM000679.1:g.62020297T>G GRCh37
NC_000017.9:g.59374029T>G NCBI36
NG_011699.1:g.34982A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.4177A>C MANE Select ENSP00000396320.1:p.Ile1393Leu
ENST00000578147.5:c.4177A>C ENSP00000463963.1:p.Ile1393Leu
NM_000334.4:c.4177A>C MANE Select NP_000325.4:p.Ile1393Leu
XM_005257566.3:c.4177A>C XP_005257623.1:p.Ile1393Leu
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