Canonical Allele Identifier: CA191303
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185204
dbSNP Id: rs763292288

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819411T>C , CM000678.2:g.68819411T>C GRCh38
NC_000016.9:g.68853314T>C , CM000678.1:g.68853314T>C GRCh37
NC_000016.8:g.67410815T>C NCBI36
NG_008021.1:g.87120T>C , LRG_301:g.87120T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1697T>C MANE Select ENSP00000261769.4:p.Ile566Thr
ENST00000261769.9:c.1697T>C ENSP00000261769.4:p.Ile566Thr
ENST00000422392.6:c.1514T>C ENSP00000414946.2:p.Ile505Thr
ENST00000562836.5:n.1768T>C
ENST00000566510.5:c.*363T>C ENSP00000458139.1:n.*363T>C
ENST00000566612.5:c.1566-2590T>C ENSP00000454782.1:n.1566-2590T>C
ENST00000611625.4:c.1760T>C ENSP00000481063.1:p.Ile587Thr
ENST00000612417.4:c.1697T>C ENSP00000478360.1:p.Ile566Thr
ENST00000621016.4:c.1697T>C ENSP00000480664.1:p.Ile566Thr
NM_004360.3:c.1697T>C , LRG_301t1:c.1697T>C NP_004351.1:p.Ile566Thr
XM_011523488.1:c.962T>C XP_011521790.1:p.Ile321Thr
XM_011523489.1:c.962T>C XP_011521791.1:p.Ile321Thr
NM_001317184.1:c.1514T>C NP_001304113.1:p.Ile505Thr
NM_001317185.1:c.149T>C NP_001304114.1:p.Ile50Thr
NM_001317186.1:c.-254-2590T>C NP_001304115.1:n.-254-2590T>C
NM_004360.4:c.1697T>C NP_004351.1:p.Ile566Thr
NM_004360.5:c.1697T>C MANE Select NP_004351.1:p.Ile566Thr
NM_001317184.2:c.1514T>C NP_001304113.1:p.Ile505Thr
NM_001317185.2:c.149T>C NP_001304114.1:p.Ile50Thr
NM_001317186.2:c.-254-2590T>C NP_001304115.1:n.-254-2590T>C