Canonical Allele Identifier: CA8709290
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1602846
ClinVar RCV Id: RCV002141608
dbSNP Id: rs769404443
ExAC: 17:62024444 C / A
gnomAD v2: 17-62024444-C-A
gnomAD v4: 17-63947084-C-A
MyVariant Identifiers: chr17:g.62024444C>A (hg19) chr17:g.63947084C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947084C>A , CM000679.2:g.63947084C>A GRCh38
NC_000017.10:g.62024444C>A , CM000679.1:g.62024444C>A GRCh37
NC_000017.9:g.59378176C>A NCBI36
NG_011699.1:g.30835G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3402G>T MANE Select ENSP00000396320.1:p.Leu1134=
ENST00000578147.5:c.3402G>T ENSP00000463963.1:p.Leu1134=
NM_000334.4:c.3402G>T MANE Select NP_000325.4:p.Leu1134=
XM_005257566.3:c.3402G>T XP_005257623.1:p.Leu1134=
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