Canonical Allele Identifier: CA16615410
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406663
ClinVar RCV Id: RCV000475163 RCV000492116 RCV001090443 RCV003328350
dbSNP Id: rs1060501244
gnomAD v4: 16-68828204-G-A
COSMIC: COSM972800
MyVariant Identifiers: chr16:g.68862107G>A (hg19) chr16:g.68828204G>A (hg38)
ERepo: CA16615410/MONDO:0007648/007 CA16615410/MONDO:0100488/007
PubMed: PMID:15235021 PMID:17545690 PMID:17634464 PMID:19269290 PMID:23073328 PMID:26072394
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68828204G>A , CM000678.2:g.68828204G>A GRCh38
NC_000016.9:g.68862107G>A , CM000678.1:g.68862107G>A GRCh37
NC_000016.8:g.67419608G>A NCBI36
NG_008021.1:g.95913G>A , LRG_301:g.95913G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2195G>A MANE Select ENSP00000261769.4:p.Arg732Gln
ENST00000261769.9:c.2195G>A ENSP00000261769.4:p.Arg732Gln
ENST00000422392.6:c.2012G>A ENSP00000414946.2:p.Arg671Gln
ENST00000562118.1:n.413G>A
ENST00000562836.5:n.2266G>A
ENST00000566510.5:c.*861G>A ENSP00000458139.1:n.*861G>A
ENST00000566612.5:c.*435G>A ENSP00000454782.1:n.*435G>A
ENST00000611625.4:c.2258G>A ENSP00000481063.1:p.Arg753Gln
ENST00000612417.4:c.1853+1650G>A ENSP00000478360.1:n.1853+1650G>A
ENST00000621016.4:c.1866-5999G>A ENSP00000480664.1:n.1866-5999G>A
NM_004360.3:c.2195G>A , LRG_301t1:c.2195G>A NP_004351.1:p.Arg732Gln
XM_011523488.1:c.1460G>A XP_011521790.1:p.Arg487Gln
XM_011523489.1:c.1460G>A XP_011521791.1:p.Arg487Gln
NM_001317184.1:c.2012G>A NP_001304113.1:p.Arg671Gln
NM_001317185.1:c.647G>A NP_001304114.1:p.Arg216Gln
NM_001317186.1:c.230G>A NP_001304115.1:p.Arg77Gln
NM_004360.4:c.2195G>A NP_004351.1:p.Arg732Gln
NM_004360.5:c.2195G>A MANE Select NP_004351.1:p.Arg732Gln
NM_001317184.2:c.2012G>A NP_001304113.1:p.Arg671Gln
NM_001317185.2:c.647G>A NP_001304114.1:p.Arg216Gln
NM_001317186.2:c.230G>A NP_001304115.1:p.Arg77Gln
Search 100 bp 5'
Search 100 bp 3'