Canonical Allele Identifier: CA121997
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12234
dbSNP Id: rs121964873
COSMIC: COSM19759

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810290G>T , CM000678.2:g.68810290G>T GRCh38
NC_000016.9:g.68844193G>T , CM000678.1:g.68844193G>T GRCh37
NC_000016.8:g.67401694G>T NCBI36
NG_008021.1:g.77999G>T , LRG_301:g.77999G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.781G>T MANE Select ENSP00000261769.4:p.Glu261Ter
ENST00000261769.9:c.781G>T ENSP00000261769.4:p.Glu261Ter
ENST00000422392.6:c.781G>T ENSP00000414946.2:p.Glu261Ter
ENST00000561751.1:c.455-1394G>T
ENST00000562836.5:n.852G>T
ENST00000566510.5:c.625G>T ENSP00000458139.1:p.Glu209Ter
ENST00000566612.5:c.781G>T ENSP00000454782.1:p.Glu261Ter
ENST00000611625.4:c.781G>T ENSP00000481063.1:p.Glu261Ter
ENST00000612417.4:c.781G>T ENSP00000478360.1:p.Glu261Ter
ENST00000621016.4:c.781G>T ENSP00000480664.1:p.Glu261Ter
NM_004360.3:c.781G>T , LRG_301t1:c.781G>T NP_004351.1:p.Glu261Ter
XM_011523488.1:c.46G>T XP_011521790.1:p.Glu16Ter
XM_011523489.1:c.46G>T XP_011521791.1:p.Glu16Ter
NM_001317184.1:c.781G>T NP_001304113.1:p.Glu261Ter
NM_001317185.1:c.-835G>T NP_001304114.1:n.-835G>T
NM_001317186.1:c.-1039G>T NP_001304115.1:n.-1039G>T
NM_004360.4:c.781G>T NP_004351.1:p.Glu261Ter
NM_004360.5:c.781G>T MANE Select NP_004351.1:p.Glu261Ter
NM_001317184.2:c.781G>T NP_001304113.1:p.Glu261Ter
NM_001317185.2:c.-835G>T NP_001304114.1:n.-835G>T
NM_001317186.2:c.-1039G>T NP_001304115.1:n.-1039G>T