Canonical Allele Identifier: CA334368

Gene: CDH1

Linked Data

• ClinVar Variation Id: 188221
• ClinVar RCV Id: RCV001565239 ; RCV003462259 ; RCV003479040
• dbSNP Id: rs780759537
• ExAC: 16:68855985 G / A
• gnomAD v2: 16-68855985-G-A
• gnomAD v3: 16-68822082-G-A
• gnomAD v4: 16-68822082-G-A
• COSMIC: COSM20835
• MyVariant Identifiers: chr16:g.68855985G>A (hg19) ; chr16:g.68822082G>A (hg38)
• PubMed: PMID:9744472 ; PMID:10094558 ; PMID:10896919 ; PMID:22788692 ; PMID:27925203

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822082G>A , CM000678.2:g.68822082G>A	GRCh38
NC_000016.9:g.68855985G>A , CM000678.1:g.68855985G>A	GRCh37
NC_000016.8:g.67413486G>A	NCBI36
NG_008021.1:g.89791G>A , LRG_301:g.89791G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1793G>A MANE Select	ENSP00000261769.4:p.Arg598Gln
ENST00000261769.9:c.1793G>A	ENSP00000261769.4:p.Arg598Gln
ENST00000422392.6:c.1610G>A	ENSP00000414946.2:p.Arg537Gln
ENST00000562836.5:n.1864G>A
ENST00000566510.5:c.*459G>A	ENSP00000458139.1:n.*459G>A
ENST00000566612.5:c.*33G>A	ENSP00000454782.1:n.*33G>A
ENST00000611625.4:c.1856G>A	ENSP00000481063.1:p.Arg619Gln
ENST00000612417.4:c.1793G>A	ENSP00000478360.1:p.Arg598Gln
ENST00000621016.4:c.1793G>A	ENSP00000480664.1:p.Arg598Gln
NM_004360.3:c.1793G>A , LRG_301t1:c.1793G>A	NP_004351.1:p.Arg598Gln
XM_011523488.1:c.1058G>A	XP_011521790.1:p.Arg353Gln
XM_011523489.1:c.1058G>A	XP_011521791.1:p.Arg353Gln
NM_001317184.1:c.1610G>A	NP_001304113.1:p.Arg537Gln
NM_001317185.1:c.245G>A	NP_001304114.1:p.Arg82Gln
NM_001317186.1:c.-173G>A	NP_001304115.1:n.-173G>A
NM_004360.4:c.1793G>A	NP_004351.1:p.Arg598Gln
NM_004360.5:c.1793G>A MANE Select	NP_004351.1:p.Arg598Gln
NM_001317184.2:c.1610G>A	NP_001304113.1:p.Arg537Gln
NM_001317185.2:c.245G>A	NP_001304114.1:p.Arg82Gln
NM_001317186.2:c.-173G>A	NP_001304115.1:n.-173G>A