Canonical Allele Identifier: CA7882635

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 319402
• ClinVar RCV Id: RCV000280974 ; RCV000712940
• dbSNP Id: rs143000899
• ExAC: 16:4848150 C / T
• gnomAD v2: 16-4848150-C-T
• gnomAD v3: 16-4798149-C-T
• gnomAD v4: 16-4798149-C-T
• MyVariant Identifiers: chr16:g.4848150C>T (hg19) ; chr16:g.4798149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798149C>T , CM000678.2:g.4798149C>T	GRCh38
NC_000016.9:g.4848150C>T , CM000678.1:g.4848150C>T	GRCh37
NC_000016.8:g.4788151C>T	NCBI36
NG_032174.1:g.9802G>A , LRG_455:g.9802G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322048.12:c.567G>A MANE Select	ENSP00000322832.6:p.Leu189=
ENST00000322048.11:c.567G>A	ENSP00000322832.5:p.Leu189=
ENST00000586153.1:c.213G>A	ENSP00000464699.1:p.Leu71=
ENST00000586336.5:n.666G>A
ENST00000586504.5:c.347G>A
ENST00000587377.5:c.580G>A	ENSP00000468343.1:p.Gly194Ser
ENST00000587711.5:c.252G>A	ENSP00000467459.1:p.Leu84=
ENST00000587843.5:c.*305G>A	ENSP00000465970.1:n.*305G>A
ENST00000588201.5:c.*558G>A	ENSP00000466529.1:n.*558G>A
ENST00000589543.5:n.524G>A
ENST00000591292.5:n.1896G>A
ENST00000591392.5:c.495G>A	ENSP00000467509.1:p.Leu165=
ENST00000592019.1:c.77-334G>A
NM_024589.2:c.567G>A , LRG_455t1:c.567G>A	NP_078865.1:p.Leu189=
NR_046480.1:n.891G>A
XM_006720947.2:c.567G>A	XP_006721010.1:p.Leu189=
XM_006720948.2:c.297G>A	XP_006721011.1:p.Leu99=
XM_006720947.4:c.567G>A	XP_006721010.1:p.Leu189=
XM_006720948.4:c.297G>A	XP_006721011.1:p.Leu99=
NM_024589.3:c.567G>A MANE Select	NP_078865.1:p.Leu189=
NR_046480.2:n.574G>A