Canonical Allele Identifier: CA400620845
Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2179560
ClinVar RCV Id: RCV002599162
dbSNP Id: rs1908752324
gnomAD v4: 17-63947164-A-T
MyVariant Identifiers: chr17:g.62024524A>T (hg19) chr17:g.63947164A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63947164A>T , CM000679.2:g.63947164A>T GRCh38
NC_000017.10:g.62024524A>T , CM000679.1:g.62024524A>T GRCh37
NC_000017.9:g.59378256A>T NCBI36
NG_011699.1:g.30755T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3322T>A MANE Select ENSP00000396320.1:p.Ser1108Thr
ENST00000578147.5:c.3322T>A ENSP00000463963.1:p.Ser1108Thr
NM_000334.4:c.3322T>A MANE Select NP_000325.4:p.Ser1108Thr
XM_005257566.3:c.3322T>A XP_005257623.1:p.Ser1108Thr
Search 100 bp 5'
Search 100 bp 3'