Canonical Allele Identifier: CA396471317
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2680425
ClinVar RCV Id: RCV003460362
dbSNP Id: rs2152142458

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829781G>A , CM000678.2:g.68829781G>A GRCh38
NC_000016.9:g.68863684G>A , CM000678.1:g.68863684G>A GRCh37
NC_000016.8:g.67421185G>A NCBI36
NG_008021.1:g.97490G>A , LRG_301:g.97490G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2423G>A MANE Select ENSP00000261769.4:p.Gly808Glu
ENST00000261769.9:c.2423G>A ENSP00000261769.4:p.Gly808Glu
ENST00000422392.6:c.2240G>A ENSP00000414946.2:p.Gly747Glu
ENST00000562118.1:n.641G>A
ENST00000562836.5:n.2494G>A
ENST00000566510.5:c.*1089G>A ENSP00000458139.1:n.*1089G>A
ENST00000566612.5:c.*663G>A ENSP00000454782.1:n.*663G>A
ENST00000611625.4:c.2486G>A ENSP00000481063.1:p.Gly829Glu
ENST00000612417.4:c.1853+3227G>A ENSP00000478360.1:n.1853+3227G>A
ENST00000621016.4:c.1866-4422G>A ENSP00000480664.1:n.1866-4422G>A
NM_004360.3:c.2423G>A , LRG_301t1:c.2423G>A NP_004351.1:p.Gly808Glu
XM_011523488.1:c.1688G>A XP_011521790.1:p.Gly563Glu
XM_011523489.1:c.1688G>A XP_011521791.1:p.Gly563Glu
NM_001317184.1:c.2240G>A NP_001304113.1:p.Gly747Glu
NM_001317185.1:c.875G>A NP_001304114.1:p.Gly292Glu
NM_001317186.1:c.458G>A NP_001304115.1:p.Gly153Glu
NM_004360.4:c.2423G>A NP_004351.1:p.Gly808Glu
NM_004360.5:c.2423G>A MANE Select NP_004351.1:p.Gly808Glu
NM_001317184.2:c.2240G>A NP_001304113.1:p.Gly747Glu
NM_001317185.2:c.875G>A NP_001304114.1:p.Gly292Glu
NM_001317186.2:c.458G>A NP_001304115.1:p.Gly153Glu