Canonical Allele Identifier: CA8708885
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 324512
ClinVar RCV Id: RCV000265921 RCV000305878 RCV000336274 RCV000360583 RCV000402814 RCV000654673
dbSNP Id: rs202102815
ExAC: 17:62018756 G / A
gnomAD v2: 17-62018756-G-A
gnomAD v3: 17-63941396-G-A
gnomAD v4: 17-63941396-G-A
MyVariant Identifiers: chr17:g.62018756G>A (hg19) chr17:g.63941396G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941396G>A , CM000679.2:g.63941396G>A GRCh38
NC_000017.10:g.62018756G>A , CM000679.1:g.62018756G>A GRCh37
NC_000017.9:g.59372488G>A NCBI36
NG_011699.1:g.36523C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4886C>T MANE Select ENSP00000396320.1:p.Pro1629Leu
ENST00000578147.5:c.4886C>T ENSP00000463963.1:p.Pro1629Leu
NM_000334.4:c.4886C>T MANE Select NP_000325.4:p.Pro1629Leu
XM_005257566.3:c.4886C>T XP_005257623.1:p.Pro1629Leu
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