Canonical Allele Identifier: CA8130297
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418114
dbSNP Id: rs767159815

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833309C>T , CM000678.2:g.68833309C>T GRCh38
NC_000016.9:g.68867212C>T , CM000678.1:g.68867212C>T GRCh37
NC_000016.8:g.67424713C>T NCBI36
NG_008021.1:g.101018C>T , LRG_301:g.101018C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2459C>T MANE Select ENSP00000261769.4:p.Thr820Ile
ENST00000261769.9:c.2459C>T ENSP00000261769.4:p.Thr820Ile
ENST00000422392.6:c.2276C>T ENSP00000414946.2:p.Thr759Ile
ENST00000562118.1:n.677C>T
ENST00000562836.5:n.2530C>T
ENST00000566510.5:c.*1125C>T ENSP00000458139.1:n.*1125C>T
ENST00000566612.5:c.*699C>T ENSP00000454782.1:n.*699C>T
ENST00000611625.4:c.2522C>T ENSP00000481063.1:p.Thr841Ile
ENST00000612417.4:c.1854-882C>T ENSP00000478360.1:n.1854-882C>T
ENST00000621016.4:c.1866-894C>T ENSP00000480664.1:n.1866-894C>T
NM_004360.3:c.2459C>T , LRG_301t1:c.2459C>T NP_004351.1:p.Thr820Ile
XM_011523488.1:c.1724C>T XP_011521790.1:p.Thr575Ile
XM_011523489.1:c.1724C>T XP_011521791.1:p.Thr575Ile
NM_001317184.1:c.2276C>T NP_001304113.1:p.Thr759Ile
NM_001317185.1:c.911C>T NP_001304114.1:p.Thr304Ile
NM_001317186.1:c.494C>T NP_001304115.1:p.Thr165Ile
NM_004360.4:c.2459C>T NP_004351.1:p.Thr820Ile
NM_004360.5:c.2459C>T MANE Select NP_004351.1:p.Thr820Ile
NM_001317184.2:c.2276C>T NP_001304113.1:p.Thr759Ile
NM_001317185.2:c.911C>T NP_001304114.1:p.Thr304Ile
NM_001317186.2:c.494C>T NP_001304115.1:p.Thr165Ile