Canonical Allele Identifier: CA383202819

Gene: CDON

Linked Data

• ClinVar Variation Id: 2745586
• ClinVar RCV Id: RCV003529656
• dbSNP Id: rs1946575604
• gnomAD v3: 11-125989738-A-G
• gnomAD v4: 11-125989738-A-G
• MyVariant Identifiers: chr11:g.125859633A>G (hg19) ; chr11:g.125989738A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.125989738A>G , CM000673.2:g.125989738A>G	GRCh38
NC_000011.9:g.125859633A>G , CM000673.1:g.125859633A>G	GRCh37
NC_000011.8:g.125364843A>G	NCBI36
NG_029776.1:g.78555T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682796.1:n.394T>C
ENST00000683026.1:n.737T>C
ENST00000683716.1:c.*396T>C	ENSP00000506883.1:n.*396T>C
ENST00000683981.1:n.747T>C
ENST00000684078.1:c.2672T>C	ENSP00000507318.1:p.Ile891Thr
ENST00000684238.1:n.2276T>C
ENST00000684636.1:c.*396T>C	ENSP00000508160.1:n.*396T>C
ENST00000531738.6:c.2672T>C MANE Select	ENSP00000432901.2:p.Ile891Thr
ENST00000680589.1:n.1190T>C
ENST00000263577.11:c.2672T>C	ENSP00000263577.7:p.Ile891Thr
ENST00000392693.7:c.2672T>C	ENSP00000376458.3:p.Ile891Thr
ENST00000531738.5:c.803T>C	ENSP00000432901.1:p.Ile268Thr
NM_001243597.1:c.2672T>C	NP_001230526.1:p.Ile891Thr
NM_016952.4:c.2672T>C	NP_058648.4:p.Ile891Thr
XM_011542862.1:c.2672T>C	XP_011541164.1:p.Ile891Thr
XM_011542863.1:c.2672T>C	XP_011541165.1:p.Ile891Thr
XM_011542864.1:c.2672T>C	XP_011541166.1:p.Ile891Thr
XM_011542865.1:c.2672T>C	XP_011541167.1:p.Ile891Thr
XM_011542866.1:c.2672T>C	XP_011541168.1:p.Ile891Thr
XM_011542862.3:c.2672T>C	XP_011541164.1:p.Ile891Thr
XM_011542863.2:c.2672T>C	XP_011541165.1:p.Ile891Thr
XM_011542864.2:c.2672T>C	XP_011541166.1:p.Ile891Thr
XM_011542865.2:c.2672T>C	XP_011541167.1:p.Ile891Thr
XM_011542866.3:c.2672T>C	XP_011541168.1:p.Ile891Thr
XM_017017873.1:c.2672T>C	XP_016873362.1:p.Ile891Thr
XR_001747899.2:n.2990T>C
NM_001243597.2:c.2672T>C	NP_001230526.1:p.Ile891Thr
NM_001378964.1:c.2672T>C MANE Select	NP_001365893.1:p.Ile891Thr
NM_016952.5:c.2672T>C	NP_058648.4:p.Ile891Thr