Canonical Allele Identifier: CA396465098
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3015076
ClinVar RCV Id: RCV003870683
dbSNP Id: rs2152136846

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819335G>A , CM000678.2:g.68819335G>A GRCh38
NC_000016.9:g.68853238G>A , CM000678.1:g.68853238G>A GRCh37
NC_000016.8:g.67410739G>A NCBI36
NG_008021.1:g.87044G>A , LRG_301:g.87044G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1621G>A MANE Select ENSP00000261769.4:p.Ala541Thr
ENST00000261769.9:c.1621G>A ENSP00000261769.4:p.Ala541Thr
ENST00000422392.6:c.1438G>A ENSP00000414946.2:p.Ala480Thr
ENST00000562836.5:n.1692G>A
ENST00000566510.5:c.*287G>A ENSP00000458139.1:n.*287G>A
ENST00000566612.5:c.1566-2666G>A ENSP00000454782.1:n.1566-2666G>A
ENST00000611625.4:c.1684G>A ENSP00000481063.1:p.Ala562Thr
ENST00000612417.4:c.1621G>A ENSP00000478360.1:p.Ala541Thr
ENST00000621016.4:c.1621G>A ENSP00000480664.1:p.Ala541Thr
NM_004360.3:c.1621G>A , LRG_301t1:c.1621G>A NP_004351.1:p.Ala541Thr
XM_011523488.1:c.886G>A XP_011521790.1:p.Ala296Thr
XM_011523489.1:c.886G>A XP_011521791.1:p.Ala296Thr
NM_001317184.1:c.1438G>A NP_001304113.1:p.Ala480Thr
NM_001317185.1:c.73G>A NP_001304114.1:p.Ala25Thr
NM_001317186.1:c.-254-2666G>A NP_001304115.1:n.-254-2666G>A
NM_004360.4:c.1621G>A NP_004351.1:p.Ala541Thr
NM_004360.5:c.1621G>A MANE Select NP_004351.1:p.Ala541Thr
NM_001317184.2:c.1438G>A NP_001304113.1:p.Ala480Thr
NM_001317185.2:c.73G>A NP_001304114.1:p.Ala25Thr
NM_001317186.2:c.-254-2666G>A NP_001304115.1:n.-254-2666G>A