Canonical Allele Identifier: CA396471972
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2993742
ClinVar RCV Id: RCV003853317
dbSNP Id: rs587782024

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833300C>A , CM000678.2:g.68833300C>A GRCh38
NC_000016.9:g.68867203C>A , CM000678.1:g.68867203C>A GRCh37
NC_000016.8:g.67424704C>A NCBI36
NG_008021.1:g.101009C>A , LRG_301:g.101009C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2450C>A MANE Select ENSP00000261769.4:p.Ala817Glu
ENST00000261769.9:c.2450C>A ENSP00000261769.4:p.Ala817Glu
ENST00000422392.6:c.2267C>A ENSP00000414946.2:p.Ala756Glu
ENST00000562118.1:n.668C>A
ENST00000562836.5:n.2521C>A
ENST00000566510.5:c.*1116C>A ENSP00000458139.1:n.*1116C>A
ENST00000566612.5:c.*690C>A ENSP00000454782.1:n.*690C>A
ENST00000611625.4:c.2513C>A ENSP00000481063.1:p.Ala838Glu
ENST00000612417.4:c.1854-891C>A ENSP00000478360.1:n.1854-891C>A
ENST00000621016.4:c.1866-903C>A ENSP00000480664.1:n.1866-903C>A
NM_004360.3:c.2450C>A , LRG_301t1:c.2450C>A NP_004351.1:p.Ala817Glu
XM_011523488.1:c.1715C>A XP_011521790.1:p.Ala572Glu
XM_011523489.1:c.1715C>A XP_011521791.1:p.Ala572Glu
NM_001317184.1:c.2267C>A NP_001304113.1:p.Ala756Glu
NM_001317185.1:c.902C>A NP_001304114.1:p.Ala301Glu
NM_001317186.1:c.485C>A NP_001304115.1:p.Ala162Glu
NM_004360.4:c.2450C>A NP_004351.1:p.Ala817Glu
NM_004360.5:c.2450C>A MANE Select NP_004351.1:p.Ala817Glu
NM_001317184.2:c.2267C>A NP_001304113.1:p.Ala756Glu
NM_001317185.2:c.902C>A NP_001304114.1:p.Ala301Glu
NM_001317186.2:c.485C>A NP_001304115.1:p.Ala162Glu