Canonical Allele Identifier: CA292962621
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1214554
ClinVar RCV Id: RCV001583644
dbSNP Id: rs72851171
gnomAD v2: 17-62024704-G-A
gnomAD v3: 17-63947344-G-A
gnomAD v4: 17-63947344-G-A
MyVariant Identifiers: chr17:g.62024704G>A (hg19) chr17:g.63947344G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947344G>A , CM000679.2:g.63947344G>A GRCh38
NC_000017.10:g.62024704G>A , CM000679.1:g.62024704G>A GRCh37
NC_000017.9:g.59378436G>A NCBI36
NG_011699.1:g.30575C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3319-177C>T MANE Select ENSP00000396320.1:n.3319-177C>T
ENST00000578147.5:c.3319-177C>T ENSP00000463963.1:n.3319-177C>T
NM_000334.4:c.3319-177C>T MANE Select NP_000325.4:n.3319-177C>T
XM_005257566.3:c.3319-177C>T XP_005257623.1:n.3319-177C>T
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