Canonical Allele Identifier: CA8129931
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406670
dbSNP Id: rs121964873
COSMIC: COSM972786

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.781G>A MANE Select ENSP00000261769.4:p.Glu261Lys
ENST00000261769.9:c.781G>A ENSP00000261769.4:p.Glu261Lys
ENST00000422392.6:c.781G>A ENSP00000414946.2:p.Glu261Lys
ENST00000561751.1:c.455-1394G>A
ENST00000562836.5:n.852G>A
ENST00000566510.5:c.625G>A ENSP00000458139.1:p.Glu209Lys
ENST00000566612.5:c.781G>A ENSP00000454782.1:p.Glu261Lys
ENST00000611625.4:c.781G>A ENSP00000481063.1:p.Glu261Lys
ENST00000612417.4:c.781G>A ENSP00000478360.1:p.Glu261Lys
ENST00000621016.4:c.781G>A ENSP00000480664.1:p.Glu261Lys
NM_004360.3:c.781G>A , LRG_301t1:c.781G>A NP_004351.1:p.Glu261Lys
XM_011523488.1:c.46G>A XP_011521790.1:p.Glu16Lys
XM_011523489.1:c.46G>A XP_011521791.1:p.Glu16Lys
NM_001317184.1:c.781G>A NP_001304113.1:p.Glu261Lys
NM_001317185.1:c.-835G>A NP_001304114.1:n.-835G>A
NM_001317186.1:c.-1039G>A NP_001304115.1:n.-1039G>A
NM_004360.4:c.781G>A NP_004351.1:p.Glu261Lys
NM_004360.5:c.781G>A MANE Select NP_004351.1:p.Glu261Lys
NM_001317184.2:c.781G>A NP_001304113.1:p.Glu261Lys
NM_001317185.2:c.-835G>A NP_001304114.1:n.-835G>A
NM_001317186.2:c.-1039G>A NP_001304115.1:n.-1039G>A