Canonical Allele Identifier: CA774008435
Gene: SCN4A HGNC NCBI

Linked Data

dbSNP Id: rs1158430265
gnomAD v4: 17-63971966-A-T
MyVariant Identifiers: chr17:g.62049326A>T (hg19) chr17:g.63971966A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63971966A>T , CM000679.2:g.63971966A>T GRCh38
NC_000017.10:g.62049326A>T , CM000679.1:g.62049326A>T GRCh37
NC_000017.9:g.59403058A>T NCBI36
NG_011699.1:g.5953T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.483-116T>A MANE Select ENSP00000396320.1:n.483-116T>A
ENST00000578147.5:c.483-116T>A ENSP00000463963.1:n.483-116T>A
NM_000334.4:c.483-116T>A MANE Select NP_000325.4:n.483-116T>A
XM_005257566.3:c.483-116T>A XP_005257623.1:n.483-116T>A
Search 100 bp 5'
Search 100 bp 3'