Canonical Allele Identifier: CA129434

Gene: CDON

Linked Data

• ClinVar Variation Id: 30747
• ClinVar RCV Id: RCV000023726 ; RCV000419072
• dbSNP Id: rs387906995
• ExAC: 11:125871707 G / C
• gnomAD v2: 11-125871707-G-C
• gnomAD v3: 11-126001812-G-C
• gnomAD v4: 11-126001812-G-C
• MyVariant Identifiers: chr11:g.125871707G>C (hg19) ; chr11:g.126001812G>C (hg38)
• PubMed: PMID:21802063

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126001812G>C , CM000673.2:g.126001812G>C	GRCh38
NC_000011.9:g.125871707G>C , CM000673.1:g.125871707G>C	GRCh37
NC_000011.8:g.125376917G>C	NCBI36
NG_029776.1:g.66481C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683716.1:c.2065C>G	ENSP00000506883.1:p.Pro689Ala
ENST00000684078.1:c.2065C>G	ENSP00000507318.1:p.Pro689Ala
ENST00000684167.1:n.2464C>G
ENST00000684238.1:n.1181C>G
ENST00000684564.1:n.2275C>G
ENST00000684636.1:c.2065C>G	ENSP00000508160.1:p.Pro689Ala
ENST00000531738.6:c.2065C>G MANE Select	ENSP00000432901.2:p.Pro689Ala
ENST00000680589.1:n.583C>G
ENST00000263577.11:c.2065C>G	ENSP00000263577.7:p.Pro689Ala
ENST00000392693.7:c.2065C>G	ENSP00000376458.3:p.Pro689Ala
ENST00000531738.5:c.196C>G	ENSP00000432901.1:p.Pro66Ala
NM_001243597.1:c.2065C>G	NP_001230526.1:p.Pro689Ala
NM_016952.4:c.2065C>G	NP_058648.4:p.Pro689Ala
XM_011542862.1:c.2065C>G	XP_011541164.1:p.Pro689Ala
XM_011542863.1:c.2065C>G	XP_011541165.1:p.Pro689Ala
XM_011542864.1:c.2065C>G	XP_011541166.1:p.Pro689Ala
XM_011542865.1:c.2065C>G	XP_011541167.1:p.Pro689Ala
XM_011542866.1:c.2065C>G	XP_011541168.1:p.Pro689Ala
XM_011542862.3:c.2065C>G	XP_011541164.1:p.Pro689Ala
XM_011542863.2:c.2065C>G	XP_011541165.1:p.Pro689Ala
XM_011542864.2:c.2065C>G	XP_011541166.1:p.Pro689Ala
XM_011542865.2:c.2065C>G	XP_011541167.1:p.Pro689Ala
XM_011542866.3:c.2065C>G	XP_011541168.1:p.Pro689Ala
XM_017017873.1:c.2065C>G	XP_016873362.1:p.Pro689Ala
XR_001747899.2:n.2376C>G
NM_001243597.2:c.2065C>G	NP_001230526.1:p.Pro689Ala
NM_001378964.1:c.2065C>G MANE Select	NP_001365893.1:p.Pro689Ala
NM_016952.5:c.2065C>G	NP_058648.4:p.Pro689Ala