Canonical Allele Identifier: CA8708973
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 543813
ClinVar RCV Id: RCV000654667 RCV000713112
dbSNP Id: rs150423825
ExAC: 17:62019252 C / T
gnomAD v2: 17-62019252-C-T
gnomAD v3: 17-63941892-C-T
gnomAD v4: 17-63941892-C-T
COSMIC: COSM6081754
MyVariant Identifiers: chr17:g.62019252C>T (hg19) chr17:g.63941892C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941892C>T , CM000679.2:g.63941892C>T GRCh38
NC_000017.10:g.62019252C>T , CM000679.1:g.62019252C>T GRCh37
NC_000017.9:g.59372984C>T NCBI36
NG_011699.1:g.36027G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4390G>A MANE Select ENSP00000396320.1:p.Gly1464Arg
ENST00000578147.5:c.4390G>A ENSP00000463963.1:p.Gly1464Arg
NM_000334.4:c.4390G>A MANE Select NP_000325.4:p.Gly1464Arg
XM_005257566.3:c.4390G>A XP_005257623.1:p.Gly1464Arg
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