Canonical Allele Identifier: CA7081107
Gene: OSGEP HGNC NCBI
COSMIC:
COSM697604 (not active)
MyVariant.info:
GRCh38 chr14:g.20447957C>T
GRCh37 chr14:g.20916116C>T
Revel Score:
ENST00000555656 0.609
ENST00000206542 (MANE Select) 0.609
ENST00000554249 0.609
ENST00000555223 0.609
ENST00000555785 0.609
gnomAD v2:
14:20916116 C / T
gnomAD v3:
14:20447957 C / T
gnomAD v4:
chr14-20447957-C-T
Joint Max Group AF 0.00031289 (EAS)
Genomes Max Group AF 0.00006804 (EAS)
Exomes Max Group AF 0.00031262 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20447957C>T , CM000676.2:g.20447957C>T GRCh38
NC_000014.8:g.20916116C>T , CM000676.1:g.20916116C>T GRCh37
NC_000014.7:g.19985956C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.9:c.740G>A MANE Select ENSP00000206542.4:p.Arg247Gln
ENST00000206542.8:c.740G>A ENSP00000206542.4:p.Arg247Gln
ENST00000554249.5:n.618G>A
ENST00000555223.5:c.660G>A
ENST00000555656.5:n.2161G>A
ENST00000555785.2:n.398G>A
ENST00000556124.3:n.888G>A
NM_017807.3:c.740G>A NP_060277.1:p.Arg247Gln
XM_011536930.1:c.683G>A XP_011535232.1:p.Arg228Gln
XM_011536931.1:c.497G>A XP_011535233.1:p.Arg166Gln
XM_011536932.1:c.497G>A XP_011535234.1:p.Arg166Gln
NM_017807.4:c.740G>A MANE Select NP_060277.1:p.Arg247Gln
Search 100 bp 5'
Search 100 bp 3'