Canonical Allele Identifier: CA7081067
Gene: OSGEP HGNC NCBI

Linked Data

ClinVar Variation Id: 444890
ClinVar RCV Id: RCV000512749
dbSNP Id: rs144732839
ExAC: 14:20915804 C / T
gnomAD v2: 14-20915804-C-T
gnomAD v3: 14-20447645-C-T
gnomAD v4: 14-20447645-C-T
MyVariant Identifiers: chr14:g.20915804C>T (hg19) chr14:g.20447645C>T (hg38)
PubMed: PMID:28805828
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20447645C>T , CM000676.2:g.20447645C>T GRCh38
NC_000014.8:g.20915804C>T , CM000676.1:g.20915804C>T GRCh37
NC_000014.7:g.19985644C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000206542.9:c.839G>A MANE Select ENSP00000206542.4:p.Arg280His
ENST00000206542.8:c.839G>A ENSP00000206542.4:p.Arg280His
ENST00000553292.1:n.44G>A
ENST00000554249.5:n.717G>A
ENST00000555223.5:c.759G>A
ENST00000555656.5:n.2260G>A
ENST00000556124.3:n.1200G>A
NM_017807.3:c.839G>A NP_060277.1:p.Arg280His
XM_011536930.1:c.782G>A XP_011535232.1:p.Arg261His
XM_011536931.1:c.596G>A XP_011535233.1:p.Arg199His
XM_011536932.1:c.596G>A XP_011535234.1:p.Arg199His
NM_017807.4:c.839G>A MANE Select NP_060277.1:p.Arg280His
Search 100 bp 5'
Search 100 bp 3'