Canonical Allele Identifier: CA396465376
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1998160
ClinVar RCV Id: RCV002792099
dbSNP Id: rs587782381

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819399C>T , CM000678.2:g.68819399C>T GRCh38
NC_000016.9:g.68853302C>T , CM000678.1:g.68853302C>T GRCh37
NC_000016.8:g.67410803C>T NCBI36
NG_008021.1:g.87108C>T , LRG_301:g.87108C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1685C>T MANE Select ENSP00000261769.4:p.Thr562Ile
ENST00000261769.9:c.1685C>T ENSP00000261769.4:p.Thr562Ile
ENST00000422392.6:c.1502C>T ENSP00000414946.2:p.Thr501Ile
ENST00000562836.5:n.1756C>T
ENST00000566510.5:c.*351C>T ENSP00000458139.1:n.*351C>T
ENST00000566612.5:c.1566-2602C>T ENSP00000454782.1:n.1566-2602C>T
ENST00000611625.4:c.1748C>T ENSP00000481063.1:p.Thr583Ile
ENST00000612417.4:c.1685C>T ENSP00000478360.1:p.Thr562Ile
ENST00000621016.4:c.1685C>T ENSP00000480664.1:p.Thr562Ile
NM_004360.3:c.1685C>T , LRG_301t1:c.1685C>T NP_004351.1:p.Thr562Ile
XM_011523488.1:c.950C>T XP_011521790.1:p.Thr317Ile
XM_011523489.1:c.950C>T XP_011521791.1:p.Thr317Ile
NM_001317184.1:c.1502C>T NP_001304113.1:p.Thr501Ile
NM_001317185.1:c.137C>T NP_001304114.1:p.Thr46Ile
NM_001317186.1:c.-254-2602C>T NP_001304115.1:n.-254-2602C>T
NM_004360.4:c.1685C>T NP_004351.1:p.Thr562Ile
NM_004360.5:c.1685C>T MANE Select NP_004351.1:p.Thr562Ile
NM_001317184.2:c.1502C>T NP_001304113.1:p.Thr501Ile
NM_001317185.2:c.137C>T NP_001304114.1:p.Thr46Ile
NM_001317186.2:c.-254-2602C>T NP_001304115.1:n.-254-2602C>T