Canonical Allele Identifier: CA400633320
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2435729
ClinVar RCV Id: RCV003136479
dbSNP Id: rs1360545929
gnomAD v3: 17-63961311-A-G
gnomAD v4: 17-63961311-A-G
MyVariant Identifiers: chr17:g.62038671A>G (hg19) chr17:g.63961311A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961311A>G , CM000679.2:g.63961311A>G GRCh38
NC_000017.10:g.62038671A>G , CM000679.1:g.62038671A>G GRCh37
NC_000017.9:g.59392403A>G NCBI36
NG_011699.1:g.16608T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1727T>C MANE Select ENSP00000396320.1:p.Met576Thr
ENST00000578147.5:c.1727T>C ENSP00000463963.1:p.Met576Thr
ENST00000581514.1:n.383T>C
NM_000334.4:c.1727T>C MANE Select NP_000325.4:p.Met576Thr
XM_005257566.3:c.1727T>C XP_005257623.1:p.Met576Thr
XR_934910.1:n.124+589A>G
XR_001752969.1:n.1276+589A>G
XR_934910.2:n.1276+589A>G
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