Canonical Allele Identifier: CA396467511
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs2152139237

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823405A>T , CM000678.2:g.68823405A>T GRCh38
NC_000016.9:g.68857308A>T , CM000678.1:g.68857308A>T GRCh37
NC_000016.8:g.67414809A>T NCBI36
NG_008021.1:g.91114A>T , LRG_301:g.91114A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1943A>T MANE Select ENSP00000261769.4:p.Glu648Val
ENST00000261769.9:c.1943A>T ENSP00000261769.4:p.Glu648Val
ENST00000422392.6:c.1760A>T ENSP00000414946.2:p.Glu587Val
ENST00000562118.1:n.161A>T
ENST00000562836.5:n.2014A>T
ENST00000566510.5:c.*609A>T ENSP00000458139.1:n.*609A>T
ENST00000566612.5:c.*183A>T ENSP00000454782.1:n.*183A>T
ENST00000611625.4:c.2006A>T ENSP00000481063.1:p.Glu669Val
ENST00000612417.4:c.1830+1286A>T ENSP00000478360.1:n.1830+1286A>T
ENST00000621016.4:c.1865+1251A>T ENSP00000480664.1:n.1865+1251A>T
NM_004360.3:c.1943A>T , LRG_301t1:c.1943A>T NP_004351.1:p.Glu648Val
XM_011523488.1:c.1208A>T XP_011521790.1:p.Glu403Val
XM_011523489.1:c.1208A>T XP_011521791.1:p.Glu403Val
NM_001317184.1:c.1760A>T NP_001304113.1:p.Glu587Val
NM_001317185.1:c.395A>T NP_001304114.1:p.Glu132Val
NM_001317186.1:c.-23A>T NP_001304115.1:n.-23A>T
NM_004360.4:c.1943A>T NP_004351.1:p.Glu648Val
NM_004360.5:c.1943A>T MANE Select NP_004351.1:p.Glu648Val
NM_001317184.2:c.1760A>T NP_001304113.1:p.Glu587Val
NM_001317185.2:c.395A>T NP_001304114.1:p.Glu132Val
NM_001317186.2:c.-23A>T NP_001304115.1:n.-23A>T