Canonical Allele Identifier: CA298980

Gene: CDH1

Linked Data

• ClinVar Variation Id: 132709
• ClinVar RCV Id: RCV002483202 ; RCV003328182 ; RCV003460841
• dbSNP Id: rs587780537
• gnomAD v4: 16-68810224-G-A
• MyVariant Identifiers: chr16:g.68844127G>A (hg19) ; chr16:g.68810224G>A (hg38)
• PubMed: PMID:16924464 ; PMID:17221870 ; PMID:17545690 ; PMID:19268661 ; PMID:20373070 ; PMID:23264079 ; PMID:26182300 ; PMID:26681312 ; PMID:26845104 ; PMID:27582386
• ERepo: CA298980/MONDO:0007648/007 ; CA298980/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68810224G>A , CM000678.2:g.68810224G>A	GRCh38
NC_000016.9:g.68844127G>A , CM000678.1:g.68844127G>A	GRCh37
NC_000016.8:g.67401628G>A	NCBI36
NG_008021.1:g.77933G>A , LRG_301:g.77933G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.715G>A MANE Select	ENSP00000261769.4:p.Gly239Arg
ENST00000261769.9:c.715G>A	ENSP00000261769.4:p.Gly239Arg
ENST00000422392.6:c.715G>A	ENSP00000414946.2:p.Gly239Arg
ENST00000561751.1:c.454+1376G>A
ENST00000562836.5:n.786G>A
ENST00000566510.5:c.559G>A	ENSP00000458139.1:p.Gly187Arg
ENST00000566612.5:c.715G>A	ENSP00000454782.1:p.Gly239Arg
ENST00000611625.4:c.715G>A	ENSP00000481063.1:p.Gly239Arg
ENST00000612417.4:c.715G>A	ENSP00000478360.1:p.Gly239Arg
ENST00000621016.4:c.715G>A	ENSP00000480664.1:p.Gly239Arg
NM_004360.3:c.715G>A , LRG_301t1:c.715G>A	NP_004351.1:p.Gly239Arg
XM_011523488.1:c.-21G>A	XP_011521790.1:n.-21G>A
XM_011523489.1:c.-21G>A	XP_011521791.1:n.-21G>A
NM_001317184.1:c.715G>A	NP_001304113.1:p.Gly239Arg
NM_001317185.1:c.-901G>A	NP_001304114.1:n.-901G>A
NM_001317186.1:c.-1105G>A	NP_001304115.1:n.-1105G>A
NM_004360.4:c.715G>A	NP_004351.1:p.Gly239Arg
NM_004360.5:c.715G>A MANE Select	NP_004351.1:p.Gly239Arg
NM_001317184.2:c.715G>A	NP_001304113.1:p.Gly239Arg
NM_001317185.2:c.-901G>A	NP_001304114.1:n.-901G>A
NM_001317186.2:c.-1105G>A	NP_001304115.1:n.-1105G>A