Canonical Allele Identifier: CA774008786
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1552390
ClinVar RCV Id: RCV002184895
dbSNP Id: rs1167045006
MyVariant Identifiers: chr17:g.62049921G>T (hg19) chr17:g.63972561G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63972561G>T , CM000679.2:g.63972561G>T GRCh38
NC_000017.10:g.62049921G>T , CM000679.1:g.62049921G>T GRCh37
NC_000017.9:g.59403653G>T NCBI36
NG_011699.1:g.5358C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000435607.3:c.273+8C>A MANE Select ENSP00000396320.1:n.273+8C>A
ENST00000578147.5:c.273+8C>A ENSP00000463963.1:n.273+8C>A
NM_000334.4:c.273+8C>A MANE Select NP_000325.4:n.273+8C>A
XM_005257566.3:c.273+8C>A XP_005257623.1:n.273+8C>A
Search 100 bp 5'
Search 100 bp 3'