Canonical Allele Identifier: CA10583404
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 239891
dbSNP Id: rs876658932
COSMIC: COSM25265

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801726C>T , CM000678.2:g.68801726C>T GRCh38
NC_000016.9:g.68835629C>T , CM000678.1:g.68835629C>T GRCh37
NC_000016.8:g.67393130C>T NCBI36
NG_008021.1:g.69435C>T , LRG_301:g.69435C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.220C>T MANE Select ENSP00000261769.4:p.Arg74Ter
ENST00000261769.9:c.220C>T ENSP00000261769.4:p.Arg74Ter
ENST00000422392.6:c.220C>T ENSP00000414946.2:p.Arg74Ter
ENST00000562836.5:n.291C>T
ENST00000564676.5:n.502C>T
ENST00000564745.1:n.215C>T
ENST00000566510.5:c.220C>T ENSP00000458139.1:p.Arg74Ter
ENST00000566612.5:c.220C>T ENSP00000454782.1:p.Arg74Ter
ENST00000611625.4:c.220C>T ENSP00000481063.1:p.Arg74Ter
ENST00000612417.4:c.220C>T ENSP00000478360.1:p.Arg74Ter
ENST00000621016.4:c.220C>T ENSP00000480664.1:p.Arg74Ter
NM_004360.3:c.220C>T , LRG_301t1:c.220C>T NP_004351.1:p.Arg74Ter
XM_011523488.1:c.-516C>T XP_011521790.1:n.-516C>T
XM_011523489.1:c.-516C>T XP_011521791.1:n.-516C>T
NM_001317184.1:c.220C>T NP_001304113.1:p.Arg74Ter
NM_001317185.1:c.-1396C>T NP_001304114.1:n.-1396C>T
NM_001317186.1:c.-1600C>T NP_001304115.1:n.-1600C>T
NM_004360.4:c.220C>T NP_004351.1:p.Arg74Ter
NM_004360.5:c.220C>T MANE Select NP_004351.1:p.Arg74Ter
NM_001317184.2:c.220C>T NP_001304113.1:p.Arg74Ter
NM_001317185.2:c.-1396C>T NP_001304114.1:n.-1396C>T
NM_001317186.2:c.-1600C>T NP_001304115.1:n.-1600C>T