Canonical Allele Identifier: CA400633273
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1357274
ClinVar RCV Id: RCV001893944 RCV003136212
dbSNP Id: rs1370498653
gnomAD v2: 17-62038665-G-A
gnomAD v4: 17-63961305-G-A
MyVariant Identifiers: chr17:g.62038665G>A (hg19) chr17:g.63961305G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961305G>A , CM000679.2:g.63961305G>A GRCh38
NC_000017.10:g.62038665G>A , CM000679.1:g.62038665G>A GRCh37
NC_000017.9:g.59392397G>A NCBI36
NG_011699.1:g.16614C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1733C>T MANE Select ENSP00000396320.1:p.Pro578Leu
ENST00000578147.5:c.1733C>T ENSP00000463963.1:p.Pro578Leu
ENST00000581514.1:n.389C>T
NM_000334.4:c.1733C>T MANE Select NP_000325.4:p.Pro578Leu
XM_005257566.3:c.1733C>T XP_005257623.1:p.Pro578Leu
XR_934910.1:n.124+583G>A
XR_001752969.1:n.1276+583G>A
XR_934910.2:n.1276+583G>A
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