Canonical Allele Identifier: CA8129812
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 463750
ClinVar RCV Id: RCV000524812
dbSNP Id: rs761562625

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.221G>C MANE Select ENSP00000261769.4:p.Arg74Pro
ENST00000261769.9:c.221G>C ENSP00000261769.4:p.Arg74Pro
ENST00000422392.6:c.221G>C ENSP00000414946.2:p.Arg74Pro
ENST00000562836.5:n.292G>C
ENST00000564676.5:n.503G>C
ENST00000564745.1:n.216G>C
ENST00000566510.5:c.221G>C ENSP00000458139.1:p.Arg74Pro
ENST00000566612.5:c.221G>C ENSP00000454782.1:p.Arg74Pro
ENST00000611625.4:c.221G>C ENSP00000481063.1:p.Arg74Pro
ENST00000612417.4:c.221G>C ENSP00000478360.1:p.Arg74Pro
ENST00000621016.4:c.221G>C ENSP00000480664.1:p.Arg74Pro
NM_004360.3:c.221G>C , LRG_301t1:c.221G>C NP_004351.1:p.Arg74Pro
XM_011523488.1:c.-515G>C XP_011521790.1:n.-515G>C
XM_011523489.1:c.-515G>C XP_011521791.1:n.-515G>C
NM_001317184.1:c.221G>C NP_001304113.1:p.Arg74Pro
NM_001317185.1:c.-1395G>C NP_001304114.1:n.-1395G>C
NM_001317186.1:c.-1599G>C NP_001304115.1:n.-1599G>C
NM_004360.4:c.221G>C NP_004351.1:p.Arg74Pro
NM_004360.5:c.221G>C MANE Select NP_004351.1:p.Arg74Pro
NM_001317184.2:c.221G>C NP_001304113.1:p.Arg74Pro
NM_001317185.2:c.-1395G>C NP_001304114.1:n.-1395G>C
NM_001317186.2:c.-1599G>C NP_001304115.1:n.-1599G>C