Canonical Allele Identifier: CA197127

Gene: CDH1

Linked Data

• ClinVar Variation Id: 187239
• ClinVar RCV Id: RCV000166954 ; RCV000991085
• dbSNP Id: rs786203576
• MyVariant Identifiers: chr16:g.68772211G>A (hg19) ; chr16:g.68738308G>A (hg38)
• ERepo: CA197127/MONDO:0007648/007 ; CA197127/MONDO:0100488/007
• PubMed: PMID:10072428

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68738308G>A , CM000678.2:g.68738308G>A	GRCh38
NC_000016.9:g.68772211G>A , CM000678.1:g.68772211G>A	GRCh37
NC_000016.8:g.67329712G>A	NCBI36
NG_008021.1:g.6017G>A , LRG_301:g.6017G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.60G>A MANE Select	ENSP00000261769.4:p.Trp20Ter
ENST00000261769.9:c.60G>A	ENSP00000261769.4:p.Trp20Ter
ENST00000422392.6:c.60G>A	ENSP00000414946.2:p.Trp20Ter
ENST00000566510.5:c.60G>A	ENSP00000458139.1:p.Trp20Ter
ENST00000566612.5:c.60G>A	ENSP00000454782.1:p.Trp20Ter
ENST00000611625.4:c.60G>A	ENSP00000481063.1:p.Trp20Ter
ENST00000612417.4:c.60G>A	ENSP00000478360.1:p.Trp20Ter
ENST00000621016.4:c.60G>A	ENSP00000480664.1:p.Trp20Ter
NM_004360.3:c.60G>A , LRG_301t1:c.60G>A	NP_004351.1:p.Trp20Ter
NM_001317184.1:c.60G>A	NP_001304113.1:p.Trp20Ter
NM_001317185.1:c.-1556G>A	NP_001304114.1:n.-1556G>A
NM_001317186.1:c.-1760G>A	NP_001304115.1:n.-1760G>A
NM_004360.4:c.60G>A	NP_004351.1:p.Trp20Ter
NM_004360.5:c.60G>A MANE Select	NP_004351.1:p.Trp20Ter
NM_001317184.2:c.60G>A	NP_001304113.1:p.Trp20Ter
NM_001317185.2:c.-1556G>A	NP_001304114.1:n.-1556G>A
NM_001317186.2:c.-1760G>A	NP_001304115.1:n.-1760G>A