Canonical Allele Identifier: CA396471295
Gene: CDH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829777A>C , CM000678.2:g.68829777A>C GRCh38
NC_000016.9:g.68863680A>C , CM000678.1:g.68863680A>C GRCh37
NC_000016.8:g.67421181A>C NCBI36
NG_008021.1:g.97486A>C , LRG_301:g.97486A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2419A>C MANE Select ENSP00000261769.4:p.Ile807Leu
ENST00000261769.9:c.2419A>C ENSP00000261769.4:p.Ile807Leu
ENST00000422392.6:c.2236A>C ENSP00000414946.2:p.Ile746Leu
ENST00000562118.1:n.637A>C
ENST00000562836.5:n.2490A>C
ENST00000566510.5:c.*1085A>C ENSP00000458139.1:n.*1085A>C
ENST00000566612.5:c.*659A>C ENSP00000454782.1:n.*659A>C
ENST00000611625.4:c.2482A>C ENSP00000481063.1:p.Ile828Leu
ENST00000612417.4:c.1853+3223A>C ENSP00000478360.1:n.1853+3223A>C
ENST00000621016.4:c.1866-4426A>C ENSP00000480664.1:n.1866-4426A>C
NM_004360.3:c.2419A>C , LRG_301t1:c.2419A>C NP_004351.1:p.Ile807Leu
XM_011523488.1:c.1684A>C XP_011521790.1:p.Ile562Leu
XM_011523489.1:c.1684A>C XP_011521791.1:p.Ile562Leu
NM_001317184.1:c.2236A>C NP_001304113.1:p.Ile746Leu
NM_001317185.1:c.871A>C NP_001304114.1:p.Ile291Leu
NM_001317186.1:c.454A>C NP_001304115.1:p.Ile152Leu
NM_004360.4:c.2419A>C NP_004351.1:p.Ile807Leu
NM_004360.5:c.2419A>C MANE Select NP_004351.1:p.Ile807Leu
NM_001317184.2:c.2236A>C NP_001304113.1:p.Ile746Leu
NM_001317185.2:c.871A>C NP_001304114.1:p.Ile291Leu
NM_001317186.2:c.454A>C NP_001304115.1:p.Ile152Leu