Canonical Allele Identifier: CA8709295
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1223185
ClinVar RCV Id: RCV001596125 RCV001866239 RCV002477862
dbSNP Id: rs772071113
ExAC: 17:62024461 G / A
gnomAD v2: 17-62024461-G-A
gnomAD v4: 17-63947101-G-A
COSMIC: COSM4068682
MyVariant Identifiers: chr17:g.62024461G>A (hg19) chr17:g.63947101G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947101G>A , CM000679.2:g.63947101G>A GRCh38
NC_000017.10:g.62024461G>A , CM000679.1:g.62024461G>A GRCh37
NC_000017.9:g.59378193G>A NCBI36
NG_011699.1:g.30818C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.3385C>T MANE Select ENSP00000396320.1:p.Arg1129Trp
ENST00000578147.5:c.3385C>T ENSP00000463963.1:p.Arg1129Trp
NM_000334.4:c.3385C>T MANE Select NP_000325.4:p.Arg1129Trp
XM_005257566.3:c.3385C>T XP_005257623.1:p.Arg1129Trp
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