Canonical Allele Identifier: CA8709758
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2832995
ClinVar RCV Id: RCV003616533
dbSNP Id: rs767551056
ExAC: 17:62038689 A / T
gnomAD v2: 17-62038689-A-T
gnomAD v4: 17-63961329-A-T
MyVariant Identifiers: chr17:g.62038689A>T (hg19) chr17:g.63961329A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961329A>T , CM000679.2:g.63961329A>T GRCh38
NC_000017.10:g.62038689A>T , CM000679.1:g.62038689A>T GRCh37
NC_000017.9:g.59392421A>T NCBI36
NG_011699.1:g.16590T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1709T>A MANE Select ENSP00000396320.1:p.Ile570Asn
ENST00000578147.5:c.1709T>A ENSP00000463963.1:p.Ile570Asn
ENST00000581514.1:n.365T>A
NM_000334.4:c.1709T>A MANE Select NP_000325.4:p.Ile570Asn
XM_005257566.3:c.1709T>A XP_005257623.1:p.Ile570Asn
XR_934910.1:n.124+607A>T
XR_001752969.1:n.1276+607A>T
XR_934910.2:n.1276+607A>T
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