Canonical Allele Identifier: CA396466644
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 567314
ClinVar RCV Id: RCV000687357
dbSNP Id: rs1555516844

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822075G>A , CM000678.2:g.68822075G>A GRCh38
NC_000016.9:g.68855978G>A , CM000678.1:g.68855978G>A GRCh37
NC_000016.8:g.67413479G>A NCBI36
NG_008021.1:g.89784G>A , LRG_301:g.89784G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1786G>A MANE Select ENSP00000261769.4:p.Glu596Lys
ENST00000261769.9:c.1786G>A ENSP00000261769.4:p.Glu596Lys
ENST00000422392.6:c.1603G>A ENSP00000414946.2:p.Glu535Lys
ENST00000562836.5:n.1857G>A
ENST00000566510.5:c.*452G>A ENSP00000458139.1:n.*452G>A
ENST00000566612.5:c.*26G>A ENSP00000454782.1:n.*26G>A
ENST00000611625.4:c.1849G>A ENSP00000481063.1:p.Glu617Lys
ENST00000612417.4:c.1786G>A ENSP00000478360.1:p.Glu596Lys
ENST00000621016.4:c.1786G>A ENSP00000480664.1:p.Glu596Lys
NM_004360.3:c.1786G>A , LRG_301t1:c.1786G>A NP_004351.1:p.Glu596Lys
XM_011523488.1:c.1051G>A XP_011521790.1:p.Glu351Lys
XM_011523489.1:c.1051G>A XP_011521791.1:p.Glu351Lys
NM_001317184.1:c.1603G>A NP_001304113.1:p.Glu535Lys
NM_001317185.1:c.238G>A NP_001304114.1:p.Glu80Lys
NM_001317186.1:c.-180G>A NP_001304115.1:n.-180G>A
NM_004360.4:c.1786G>A NP_004351.1:p.Glu596Lys
NM_004360.5:c.1786G>A MANE Select NP_004351.1:p.Glu596Lys
NM_001317184.2:c.1603G>A NP_001304113.1:p.Glu535Lys
NM_001317185.2:c.238G>A NP_001304114.1:p.Glu80Lys
NM_001317186.2:c.-180G>A NP_001304115.1:n.-180G>A