Canonical Allele Identifier: CA8710234
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2042752
ClinVar RCV Id: RCV002895638
dbSNP Id: rs375940672
ExAC: 17:62049912 C / T
gnomAD v2: 17-62049912-C-T
gnomAD v3: 17-63972552-C-T
gnomAD v4: 17-63972552-C-T
MyVariant Identifiers: chr17:g.62049912C>T (hg19) chr17:g.63972552C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972552C>T , CM000679.2:g.63972552C>T GRCh38
NC_000017.10:g.62049912C>T , CM000679.1:g.62049912C>T GRCh37
NC_000017.9:g.59403644C>T NCBI36
NG_011699.1:g.5367G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.273+17G>A MANE Select ENSP00000396320.1:n.273+17G>A
ENST00000578147.5:c.273+17G>A ENSP00000463963.1:n.273+17G>A
NM_000334.4:c.273+17G>A MANE Select NP_000325.4:n.273+17G>A
XM_005257566.3:c.273+17G>A XP_005257623.1:n.273+17G>A
Search 100 bp 5'
Search 100 bp 3'