Canonical Allele Identifier: CA8708846
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 805396
ClinVar RCV Id: RCV000992902 RCV001858760
dbSNP Id: rs541964442
ExAC: 17:62018591 G / A
gnomAD v2: 17-62018591-G-A
gnomAD v3: 17-63941231-G-A
gnomAD v4: 17-63941231-G-A
MyVariant Identifiers: chr17:g.62018591G>A (hg19) chr17:g.63941231G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941231G>A , CM000679.2:g.63941231G>A GRCh38
NC_000017.10:g.62018591G>A , CM000679.1:g.62018591G>A GRCh37
NC_000017.9:g.59372323G>A NCBI36
NG_011699.1:g.36688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.5051C>T MANE Select ENSP00000396320.1:p.Thr1684Ile
ENST00000578147.5:c.5051C>T ENSP00000463963.1:p.Thr1684Ile
NM_000334.4:c.5051C>T MANE Select NP_000325.4:p.Thr1684Ile
XM_005257566.3:c.5051C>T XP_005257623.1:p.Thr1684Ile
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