Canonical Allele Identifier: CA8708788
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 324507
ClinVar RCV Id: RCV000284690 RCV000279048 RCV000339663 RCV000379267 RCV000517790 RCV000874919
dbSNP Id: rs531694454
ExAC: 17:62018349 C / T
gnomAD v2: 17-62018349-C-T
gnomAD v3: 17-63940989-C-T
gnomAD v4: 17-63940989-C-T
COSMIC: COSM982763
MyVariant Identifiers: chr17:g.62018349C>T (hg19) chr17:g.63940989C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63940989C>T , CM000679.2:g.63940989C>T GRCh38
NC_000017.10:g.62018349C>T , CM000679.1:g.62018349C>T GRCh37
NC_000017.9:g.59372081C>T NCBI36
NG_011699.1:g.36930G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5293G>A MANE Select ENSP00000396320.1:p.Ala1765Thr
ENST00000578147.5:c.5293G>A ENSP00000463963.1:p.Ala1765Thr
NM_000334.4:c.5293G>A MANE Select NP_000325.4:p.Ala1765Thr
XM_005257566.3:c.5293G>A XP_005257623.1:p.Ala1765Thr
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