Canonical Allele Identifier: CA347984
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220445
dbSNP Id: rs776890776

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819299A>G , CM000678.2:g.68819299A>G GRCh38
NC_000016.9:g.68853202A>G , CM000678.1:g.68853202A>G GRCh37
NC_000016.8:g.67410703A>G NCBI36
NG_008021.1:g.87008A>G , LRG_301:g.87008A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1585A>G MANE Select ENSP00000261769.4:p.Thr529Ala
ENST00000261769.9:c.1585A>G ENSP00000261769.4:p.Thr529Ala
ENST00000422392.6:c.1402A>G ENSP00000414946.2:p.Thr468Ala
ENST00000562836.5:n.1656A>G
ENST00000566510.5:c.*251A>G ENSP00000458139.1:n.*251A>G
ENST00000566612.5:c.1566-2702A>G ENSP00000454782.1:n.1566-2702A>G
ENST00000611625.4:c.1648A>G ENSP00000481063.1:p.Thr550Ala
ENST00000612417.4:c.1585A>G ENSP00000478360.1:p.Thr529Ala
ENST00000621016.4:c.1585A>G ENSP00000480664.1:p.Thr529Ala
NM_004360.3:c.1585A>G , LRG_301t1:c.1585A>G NP_004351.1:p.Thr529Ala
XM_011523488.1:c.850A>G XP_011521790.1:p.Thr284Ala
XM_011523489.1:c.850A>G XP_011521791.1:p.Thr284Ala
NM_001317184.1:c.1402A>G NP_001304113.1:p.Thr468Ala
NM_001317185.1:c.37A>G NP_001304114.1:p.Thr13Ala
NM_001317186.1:c.-254-2702A>G NP_001304115.1:n.-254-2702A>G
NM_004360.4:c.1585A>G NP_004351.1:p.Thr529Ala
NM_004360.5:c.1585A>G MANE Select NP_004351.1:p.Thr529Ala
NM_001317184.2:c.1402A>G NP_001304113.1:p.Thr468Ala
NM_001317185.2:c.37A>G NP_001304114.1:p.Thr13Ala
NM_001317186.2:c.-254-2702A>G NP_001304115.1:n.-254-2702A>G