Canonical Allele Identifier: CA7882763

Gene: ROGDI

Linked Data

• ClinVar Variation Id: 461608
• ClinVar RCV Id: RCV000551835 ; RCV003424102
• dbSNP Id: rs145588848
• ExAC: 16:4849741 C / G
• gnomAD v2: 16-4849741-C-G
• gnomAD v3: 16-4799740-C-G
• gnomAD v4: 16-4799740-C-G
• MyVariant Identifiers: chr16:g.4849741C>G (hg19) ; chr16:g.4799740C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4799740C>G , CM000678.2:g.4799740C>G	GRCh38
NC_000016.9:g.4849741C>G , CM000678.1:g.4849741C>G	GRCh37
NC_000016.8:g.4789742C>G	NCBI36
NG_032174.1:g.8211G>C , LRG_455:g.8211G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322048.12:c.378G>C MANE Select	ENSP00000322832.6:p.Leu126=
ENST00000322048.11:c.378G>C	ENSP00000322832.5:p.Leu126=
ENST00000585653.1:n.510G>C
ENST00000586153.1:c.123G>C	ENSP00000464699.1:p.Leu41=
ENST00000586336.5:n.477G>C
ENST00000586504.5:c.158G>C
ENST00000587377.5:c.378G>C	ENSP00000468343.1:p.Leu126=
ENST00000587711.5:c.118-1073G>C	ENSP00000467459.1:n.118-1073G>C
ENST00000587843.5:c.*116G>C	ENSP00000465970.1:n.*116G>C
ENST00000588201.5:c.*235G>C	ENSP00000466529.1:n.*235G>C
ENST00000589543.5:n.335G>C
ENST00000591292.5:n.1707G>C
ENST00000591392.5:c.306G>C	ENSP00000467509.1:p.Leu102=
ENST00000592019.1:c.76+21G>C
NM_024589.2:c.378G>C , LRG_455t1:c.378G>C	NP_078865.1:p.Leu126=
NR_046480.1:n.702G>C
XM_006720947.2:c.378G>C	XP_006721010.1:p.Leu126=
XM_006720948.2:c.108G>C	XP_006721011.1:p.Leu36=
XM_006720947.4:c.378G>C	XP_006721010.1:p.Leu126=
XM_006720948.4:c.108G>C	XP_006721011.1:p.Leu36=
NM_024589.3:c.378G>C MANE Select	NP_078865.1:p.Leu126=
NR_046480.2:n.385G>C