Canonical Allele Identifier: CA496157413
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 481697
ClinVar RCV Id: RCV000570414
dbSNP Id: rs1555517848

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829707T>A , CM000678.2:g.68829707T>A GRCh38
NC_000016.9:g.68863610T>A , CM000678.1:g.68863610T>A GRCh37
NC_000016.8:g.67421111T>A NCBI36
NG_008021.1:g.97416T>A , LRG_301:g.97416T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2349T>A MANE Select ENSP00000261769.4:p.Thr783=
ENST00000261769.9:c.2349T>A ENSP00000261769.4:p.Thr783=
ENST00000422392.6:c.2166T>A ENSP00000414946.2:p.Thr722=
ENST00000562118.1:n.567T>A
ENST00000562836.5:n.2420T>A
ENST00000566510.5:c.*1015T>A ENSP00000458139.1:n.*1015T>A
ENST00000566612.5:c.*589T>A ENSP00000454782.1:n.*589T>A
ENST00000611625.4:c.2412T>A ENSP00000481063.1:p.Thr804=
ENST00000612417.4:c.1853+3153T>A ENSP00000478360.1:n.1853+3153T>A
ENST00000621016.4:c.1866-4496T>A ENSP00000480664.1:n.1866-4496T>A
NM_004360.3:c.2349T>A , LRG_301t1:c.2349T>A NP_004351.1:p.Thr783=
XM_011523488.1:c.1614T>A XP_011521790.1:p.Thr538=
XM_011523489.1:c.1614T>A XP_011521791.1:p.Thr538=
NM_001317184.1:c.2166T>A NP_001304113.1:p.Thr722=
NM_001317185.1:c.801T>A NP_001304114.1:p.Thr267=
NM_001317186.1:c.384T>A NP_001304115.1:p.Thr128=
NM_004360.4:c.2349T>A NP_004351.1:p.Thr783=
NM_004360.5:c.2349T>A MANE Select NP_004351.1:p.Thr783=
NM_001317184.2:c.2166T>A NP_001304113.1:p.Thr722=
NM_001317185.2:c.801T>A NP_001304114.1:p.Thr267=
NM_001317186.2:c.384T>A NP_001304115.1:p.Thr128=