Canonical Allele Identifier: CA400633252
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1189356397
gnomAD v2: 17-62038660-C-T
gnomAD v3: 17-63961300-C-T
gnomAD v4: 17-63961300-C-T
MyVariant Identifiers: chr17:g.62038660C>T (hg19) chr17:g.63961300C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961300C>T , CM000679.2:g.63961300C>T GRCh38
NC_000017.10:g.62038660C>T , CM000679.1:g.62038660C>T GRCh37
NC_000017.9:g.59392392C>T NCBI36
NG_011699.1:g.16619G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1738G>A MANE Select ENSP00000396320.1:p.Val580Met
ENST00000578147.5:c.1738G>A ENSP00000463963.1:p.Val580Met
ENST00000581514.1:n.394G>A
NM_000334.4:c.1738G>A MANE Select NP_000325.4:p.Val580Met
XM_005257566.3:c.1738G>A XP_005257623.1:p.Val580Met
XR_934910.1:n.124+578C>T
XR_001752969.1:n.1276+578C>T
XR_934910.2:n.1276+578C>T
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