Canonical Allele Identifier: CA10583418

Gene: CDH1

Linked Data

• ClinVar Variation Id: 239888
• ClinVar RCV Id: RCV000228422 ; RCV003238748
• dbSNP Id: rs878854680
• gnomAD v2: 16-68855992-A-G
• gnomAD v4: 16-68822089-A-G
• COSMIC: COSM19519
• MyVariant Identifiers: chr16:g.68855992A>G (hg19) ; chr16:g.68822089A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822089A>G , CM000678.2:g.68822089A>G	GRCh38
NC_000016.9:g.68855992A>G , CM000678.1:g.68855992A>G	GRCh37
NC_000016.8:g.67413493A>G	NCBI36
NG_008021.1:g.89798A>G , LRG_301:g.89798A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1800A>G MANE Select	ENSP00000261769.4:p.Ile600Met
ENST00000261769.9:c.1800A>G	ENSP00000261769.4:p.Ile600Met
ENST00000422392.6:c.1617A>G	ENSP00000414946.2:p.Ile539Met
ENST00000562836.5:n.1871A>G
ENST00000566510.5:c.*466A>G	ENSP00000458139.1:n.*466A>G
ENST00000566612.5:c.*40A>G	ENSP00000454782.1:n.*40A>G
ENST00000611625.4:c.1863A>G	ENSP00000481063.1:p.Ile621Met
ENST00000612417.4:c.1800A>G	ENSP00000478360.1:p.Ile600Met
ENST00000621016.4:c.1800A>G	ENSP00000480664.1:p.Ile600Met
NM_004360.3:c.1800A>G , LRG_301t1:c.1800A>G	NP_004351.1:p.Ile600Met
XM_011523488.1:c.1065A>G	XP_011521790.1:p.Ile355Met
XM_011523489.1:c.1065A>G	XP_011521791.1:p.Ile355Met
NM_001317184.1:c.1617A>G	NP_001304113.1:p.Ile539Met
NM_001317185.1:c.252A>G	NP_001304114.1:p.Ile84Met
NM_001317186.1:c.-166A>G	NP_001304115.1:n.-166A>G
NM_004360.4:c.1800A>G	NP_004351.1:p.Ile600Met
NM_004360.5:c.1800A>G MANE Select	NP_004351.1:p.Ile600Met
NM_001317184.2:c.1617A>G	NP_001304113.1:p.Ile539Met
NM_001317185.2:c.252A>G	NP_001304114.1:p.Ile84Met
NM_001317186.2:c.-166A>G	NP_001304115.1:n.-166A>G