Canonical Allele Identifier: CA396457187
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 463749
dbSNP Id: rs761562625

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801727G>A , CM000678.2:g.68801727G>A GRCh38
NC_000016.9:g.68835630G>A , CM000678.1:g.68835630G>A GRCh37
NC_000016.8:g.67393131G>A NCBI36
NG_008021.1:g.69436G>A , LRG_301:g.69436G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.221G>A MANE Select ENSP00000261769.4:p.Arg74Gln
ENST00000261769.9:c.221G>A ENSP00000261769.4:p.Arg74Gln
ENST00000422392.6:c.221G>A ENSP00000414946.2:p.Arg74Gln
ENST00000562836.5:n.292G>A
ENST00000564676.5:n.503G>A
ENST00000564745.1:n.216G>A
ENST00000566510.5:c.221G>A ENSP00000458139.1:p.Arg74Gln
ENST00000566612.5:c.221G>A ENSP00000454782.1:p.Arg74Gln
ENST00000611625.4:c.221G>A ENSP00000481063.1:p.Arg74Gln
ENST00000612417.4:c.221G>A ENSP00000478360.1:p.Arg74Gln
ENST00000621016.4:c.221G>A ENSP00000480664.1:p.Arg74Gln
NM_004360.3:c.221G>A , LRG_301t1:c.221G>A NP_004351.1:p.Arg74Gln
XM_011523488.1:c.-515G>A XP_011521790.1:n.-515G>A
XM_011523489.1:c.-515G>A XP_011521791.1:n.-515G>A
NM_001317184.1:c.221G>A NP_001304113.1:p.Arg74Gln
NM_001317185.1:c.-1395G>A NP_001304114.1:n.-1395G>A
NM_001317186.1:c.-1599G>A NP_001304115.1:n.-1599G>A
NM_004360.4:c.221G>A NP_004351.1:p.Arg74Gln
NM_004360.5:c.221G>A MANE Select NP_004351.1:p.Arg74Gln
NM_001317184.2:c.221G>A NP_001304113.1:p.Arg74Gln
NM_001317185.2:c.-1395G>A NP_001304114.1:n.-1395G>A
NM_001317186.2:c.-1599G>A NP_001304115.1:n.-1599G>A