Canonical Allele Identifier: CA396472853
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2693114
ClinVar RCV Id: RCV003512250
dbSNP Id: rs555842031

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833479G>C , CM000678.2:g.68833479G>C GRCh38
NC_000016.9:g.68867382G>C , CM000678.1:g.68867382G>C GRCh37
NC_000016.8:g.67424883G>C NCBI36
NG_008021.1:g.101188G>C , LRG_301:g.101188G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2629G>C MANE Select ENSP00000261769.4:p.Gly877Arg
ENST00000261769.9:c.2629G>C ENSP00000261769.4:p.Gly877Arg
ENST00000422392.6:c.2446G>C ENSP00000414946.2:p.Gly816Arg
ENST00000562118.1:n.847G>C
ENST00000562836.5:n.2700G>C
ENST00000566510.5:c.*1295G>C ENSP00000458139.1:n.*1295G>C
ENST00000566612.5:c.*869G>C ENSP00000454782.1:n.*869G>C
ENST00000611625.4:c.2692G>C ENSP00000481063.1:p.Gly898Arg
ENST00000612417.4:c.1854-712G>C ENSP00000478360.1:n.1854-712G>C
ENST00000621016.4:c.1866-724G>C ENSP00000480664.1:n.1866-724G>C
NM_004360.3:c.2629G>C , LRG_301t1:c.2629G>C NP_004351.1:p.Gly877Arg
XM_011523488.1:c.1894G>C XP_011521790.1:p.Gly632Arg
XM_011523489.1:c.1894G>C XP_011521791.1:p.Gly632Arg
NM_001317184.1:c.2446G>C NP_001304113.1:p.Gly816Arg
NM_001317185.1:c.1081G>C NP_001304114.1:p.Gly361Arg
NM_001317186.1:c.664G>C NP_001304115.1:p.Gly222Arg
NM_004360.4:c.2629G>C NP_004351.1:p.Gly877Arg
NM_004360.5:c.2629G>C MANE Select NP_004351.1:p.Gly877Arg
NM_001317184.2:c.2446G>C NP_001304113.1:p.Gly816Arg
NM_001317185.2:c.1081G>C NP_001304114.1:p.Gly361Arg
NM_001317186.2:c.664G>C NP_001304115.1:p.Gly222Arg