Canonical Allele Identifier: CA7882653

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 319403
• ClinVar RCV Id: RCV000340704 ; RCV001532277
• dbSNP Id: rs3747610
• ExAC: 16:4848189 C / T
• gnomAD v2: 16-4848189-C-T
• gnomAD v3: 16-4798188-C-T
• gnomAD v4: 16-4798188-C-T
• MyVariant Identifiers: chr16:g.4848189C>T (hg19) ; chr16:g.4798188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4798188C>T , CM000678.2:g.4798188C>T	GRCh38
NC_000016.9:g.4848189C>T , CM000678.1:g.4848189C>T	GRCh37
NC_000016.8:g.4788190C>T	NCBI36
NG_032174.1:g.9763G>A , LRG_455:g.9763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322048.12:c.532-4G>A MANE Select	ENSP00000322832.6:n.532-4G>A
ENST00000322048.11:c.532-4G>A	ENSP00000322832.5:n.532-4G>A
ENST00000586153.1:c.178-4G>A	ENSP00000464699.1:n.178-4G>A
ENST00000586336.5:n.631-4G>A
ENST00000586504.5:c.312-4G>A
ENST00000587377.5:c.545-4G>A	ENSP00000468343.1:n.545-4G>A
ENST00000587711.5:c.217-4G>A	ENSP00000467459.1:n.217-4G>A
ENST00000587843.5:c.*270-4G>A	ENSP00000465970.1:n.*270-4G>A
ENST00000588201.5:c.*523-4G>A	ENSP00000466529.1:n.*523-4G>A
ENST00000589543.5:n.489-4G>A
ENST00000591292.5:n.1861-4G>A
ENST00000591392.5:c.460-4G>A	ENSP00000467509.1:n.460-4G>A
ENST00000592019.1:c.77-373G>A
NM_024589.2:c.532-4G>A , LRG_455t1:c.532-4G>A	NP_078865.1:n.532-4G>A
NR_046480.1:n.856-4G>A
XM_006720947.2:c.532-4G>A	XP_006721010.1:n.532-4G>A
XM_006720948.2:c.262-4G>A	XP_006721011.1:n.262-4G>A
XM_006720947.4:c.532-4G>A	XP_006721010.1:n.532-4G>A
XM_006720948.4:c.262-4G>A	XP_006721011.1:n.262-4G>A
NM_024589.3:c.532-4G>A MANE Select	NP_078865.1:n.532-4G>A
NR_046480.2:n.539-4G>A