Canonical Allele Identifier: CA129438

Gene: CDON

Linked Data

• ClinVar Variation Id: 30749
• ClinVar RCV Id: RCV000023728
• dbSNP Id: rs387906997
• gnomAD v4: 11-125995047-T-C
• MyVariant Identifiers: chr11:g.125864942T>C (hg19) ; chr11:g.125995047T>C (hg38)
• PubMed: PMID:21802063

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.125995047T>C , CM000673.2:g.125995047T>C	GRCh38
NC_000011.9:g.125864942T>C , CM000673.1:g.125864942T>C	GRCh37
NC_000011.8:g.125370152T>C	NCBI36
NG_029776.1:g.73246A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682796.1:n.90A>G
ENST00000683416.1:c.228A>G
ENST00000683716.1:c.*92A>G	ENSP00000506883.1:n.*92A>G
ENST00000684078.1:c.2368A>G	ENSP00000507318.1:p.Thr790Ala
ENST00000684238.1:n.1491A>G
ENST00000684636.1:c.*92A>G	ENSP00000508160.1:n.*92A>G
ENST00000531738.6:c.2368A>G MANE Select	ENSP00000432901.2:p.Thr790Ala
ENST00000680589.1:n.886A>G
ENST00000263577.11:c.2368A>G	ENSP00000263577.7:p.Thr790Ala
ENST00000392693.7:c.2368A>G	ENSP00000376458.3:p.Thr790Ala
ENST00000531738.5:c.499A>G	ENSP00000432901.1:p.Thr167Ala
NM_001243597.1:c.2368A>G	NP_001230526.1:p.Thr790Ala
NM_016952.4:c.2368A>G	NP_058648.4:p.Thr790Ala
XM_011542862.1:c.2368A>G	XP_011541164.1:p.Thr790Ala
XM_011542863.1:c.2368A>G	XP_011541165.1:p.Thr790Ala
XM_011542864.1:c.2368A>G	XP_011541166.1:p.Thr790Ala
XM_011542865.1:c.2368A>G	XP_011541167.1:p.Thr790Ala
XM_011542866.1:c.2368A>G	XP_011541168.1:p.Thr790Ala
XM_011542862.3:c.2368A>G	XP_011541164.1:p.Thr790Ala
XM_011542863.2:c.2368A>G	XP_011541165.1:p.Thr790Ala
XM_011542864.2:c.2368A>G	XP_011541166.1:p.Thr790Ala
XM_011542865.2:c.2368A>G	XP_011541167.1:p.Thr790Ala
XM_011542866.3:c.2368A>G	XP_011541168.1:p.Thr790Ala
XM_017017873.1:c.2368A>G	XP_016873362.1:p.Thr790Ala
XR_001747899.2:n.2686A>G
NM_001243597.2:c.2368A>G	NP_001230526.1:p.Thr790Ala
NM_001378964.1:c.2368A>G MANE Select	NP_001365893.1:p.Thr790Ala
NM_016952.5:c.2368A>G	NP_058648.4:p.Thr790Ala