Canonical Allele Identifier: CA396470966
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2031587
ClinVar RCV Id: RCV002867326

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829701A>C , CM000678.2:g.68829701A>C GRCh38
NC_000016.9:g.68863604A>C , CM000678.1:g.68863604A>C GRCh37
NC_000016.8:g.67421105A>C NCBI36
NG_008021.1:g.97410A>C , LRG_301:g.97410A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2343A>C MANE Select ENSP00000261769.4:p.Glu781Asp
ENST00000261769.9:c.2343A>C ENSP00000261769.4:p.Glu781Asp
ENST00000422392.6:c.2160A>C ENSP00000414946.2:p.Glu720Asp
ENST00000562118.1:n.561A>C
ENST00000562836.5:n.2414A>C
ENST00000566510.5:c.*1009A>C ENSP00000458139.1:n.*1009A>C
ENST00000566612.5:c.*583A>C ENSP00000454782.1:n.*583A>C
ENST00000611625.4:c.2406A>C ENSP00000481063.1:p.Glu802Asp
ENST00000612417.4:c.1853+3147A>C ENSP00000478360.1:n.1853+3147A>C
ENST00000621016.4:c.1866-4502A>C ENSP00000480664.1:n.1866-4502A>C
NM_004360.3:c.2343A>C , LRG_301t1:c.2343A>C NP_004351.1:p.Glu781Asp
XM_011523488.1:c.1608A>C XP_011521790.1:p.Glu536Asp
XM_011523489.1:c.1608A>C XP_011521791.1:p.Glu536Asp
NM_001317184.1:c.2160A>C NP_001304113.1:p.Glu720Asp
NM_001317185.1:c.795A>C NP_001304114.1:p.Glu265Asp
NM_001317186.1:c.378A>C NP_001304115.1:p.Glu126Asp
NM_004360.4:c.2343A>C NP_004351.1:p.Glu781Asp
NM_004360.5:c.2343A>C MANE Select NP_004351.1:p.Glu781Asp
NM_001317184.2:c.2160A>C NP_001304113.1:p.Glu720Asp
NM_001317185.2:c.795A>C NP_001304114.1:p.Glu265Asp
NM_001317186.2:c.378A>C NP_001304115.1:p.Glu126Asp