Canonical Allele Identifier: CA501348671
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 682329
ClinVar RCV Id: RCV000842392
dbSNP Id: rs1598406728
gnomAD v4: 17-63945504-G-A
MyVariant Identifiers: chr17:g.62022864G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945504G>A , CM000679.2:g.63945504G>A GRCh38
NC_000017.10:g.62022864G>A , CM000679.1:g.62022864G>A GRCh37
NC_000017.9:g.59376596G>A NCBI36
NG_011699.1:g.32415C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3576C>T MANE Select ENSP00000396320.1:p.Thr1192=
ENST00000578147.5:c.3576C>T ENSP00000463963.1:p.Thr1192=
NM_000334.4:c.3576C>T MANE Select NP_000325.4:p.Thr1192=
XM_005257566.3:c.3576C>T XP_005257623.1:p.Thr1192=
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