Canonical Allele Identifier: CA400614867
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1908528023
gnomAD v4: 17-63941447-A-T
MyVariant Identifiers: chr17:g.62018807A>T (hg19) chr17:g.63941447A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941447A>T , CM000679.2:g.63941447A>T GRCh38
NC_000017.10:g.62018807A>T , CM000679.1:g.62018807A>T GRCh37
NC_000017.9:g.59372539A>T NCBI36
NG_011699.1:g.36472T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4835T>A MANE Select ENSP00000396320.1:p.Leu1612His
ENST00000578147.5:c.4835T>A ENSP00000463963.1:p.Leu1612His
NM_000334.4:c.4835T>A MANE Select NP_000325.4:p.Leu1612His
XM_005257566.3:c.4835T>A XP_005257623.1:p.Leu1612His
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