Canonical Allele Identifier: CA400620750
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2729022
ClinVar RCV Id: RCV003506379
gnomAD v4: 17-63947146-C-A
MyVariant Identifiers: chr17:g.62024506C>A (hg19) chr17:g.63947146C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947146C>A , CM000679.2:g.63947146C>A GRCh38
NC_000017.10:g.62024506C>A , CM000679.1:g.62024506C>A GRCh37
NC_000017.9:g.59378238C>A NCBI36
NG_011699.1:g.30773G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3340G>T MANE Select ENSP00000396320.1:p.Ala1114Ser
ENST00000578147.5:c.3340G>T ENSP00000463963.1:p.Ala1114Ser
NM_000334.4:c.3340G>T MANE Select NP_000325.4:p.Ala1114Ser
XM_005257566.3:c.3340G>T XP_005257623.1:p.Ala1114Ser
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