Canonical Allele Identifier: CA8708799
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 582323
ClinVar RCV Id: RCV000706368 RCV002477631 RCV003141704
dbSNP Id: rs758293600
ExAC: 17:62018379 G / A
gnomAD v2: 17-62018379-G-A
gnomAD v4: 17-63941019-G-A
MyVariant Identifiers: chr17:g.62018379G>A (hg19) chr17:g.63941019G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941019G>A , CM000679.2:g.63941019G>A GRCh38
NC_000017.10:g.62018379G>A , CM000679.1:g.62018379G>A GRCh37
NC_000017.9:g.59372111G>A NCBI36
NG_011699.1:g.36900C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5263C>T MANE Select ENSP00000396320.1:p.Arg1755Cys
ENST00000578147.5:c.5263C>T ENSP00000463963.1:p.Arg1755Cys
NM_000334.4:c.5263C>T MANE Select NP_000325.4:p.Arg1755Cys
XM_005257566.3:c.5263C>T XP_005257623.1:p.Arg1755Cys
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