Canonical Allele Identifier: CA10577547
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 234554
dbSNP Id: rs746481984
COSMIC: COSM159879

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819393C>G , CM000678.2:g.68819393C>G GRCh38
NC_000016.9:g.68853296C>G , CM000678.1:g.68853296C>G GRCh37
NC_000016.8:g.67410797C>G NCBI36
NG_008021.1:g.87102C>G , LRG_301:g.87102C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1679C>G MANE Select ENSP00000261769.4:p.Thr560Arg
ENST00000261769.9:c.1679C>G ENSP00000261769.4:p.Thr560Arg
ENST00000422392.6:c.1496C>G ENSP00000414946.2:p.Thr499Arg
ENST00000562836.5:n.1750C>G
ENST00000566510.5:c.*345C>G ENSP00000458139.1:p.=
ENST00000566612.5:c.1566-2608C>G ENSP00000454782.1:p.=
ENST00000611625.4:c.1742C>G ENSP00000481063.1:p.Thr581Arg
ENST00000612417.4:c.1679C>G ENSP00000478360.1:p.Thr560Arg
ENST00000621016.4:c.1679C>G ENSP00000480664.1:p.Thr560Arg
NM_004360.3:c.1679C>G , LRG_301t1:c.1679C>G NP_004351.1:p.Thr560Arg
XM_011523488.1:c.944C>G XP_011521790.1:p.Thr315Arg
XM_011523489.1:c.944C>G XP_011521791.1:p.Thr315Arg
NM_001317184.1:c.1496C>G NP_001304113.1:p.Thr499Arg
NM_001317185.1:c.131C>G NP_001304114.1:p.Thr44Arg
NM_001317186.1:c.-254-2608C>G NP_001304115.1:p.=
NM_004360.4:c.1679C>G NP_004351.1:p.Thr560Arg
NM_004360.5:c.1679C>G MANE Select NP_004351.1:p.Thr560Arg
NM_001317184.2:c.1496C>G NP_001304113.1:p.Thr499Arg
NM_001317185.2:c.131C>G NP_001304114.1:p.Thr44Arg
NM_001317186.2:c.-254-2608C>G NP_001304115.1:p.=