Canonical Allele Identifier: CA400633586
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1479727
ClinVar RCV Id: RCV002009871
dbSNP Id: rs1597980227
gnomAD v4: 17-63961345-G-C
MyVariant Identifiers: chr17:g.62038705G>C (hg19) chr17:g.63961345G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63961345G>C , CM000679.2:g.63961345G>C GRCh38
NC_000017.10:g.62038705G>C , CM000679.1:g.62038705G>C GRCh37
NC_000017.9:g.59392437G>C NCBI36
NG_011699.1:g.16574C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.1693C>G MANE Select ENSP00000396320.1:p.Leu565Val
ENST00000578147.5:c.1693C>G ENSP00000463963.1:p.Leu565Val
ENST00000581514.1:n.349C>G
NM_000334.4:c.1693C>G MANE Select NP_000325.4:p.Leu565Val
XM_005257566.3:c.1693C>G XP_005257623.1:p.Leu565Val
XR_934910.1:n.124+623G>C
XR_001752969.1:n.1276+623G>C
XR_934910.2:n.1276+623G>C
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