Canonical Allele Identifier: CA283310229

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2502964
• ClinVar RCV Id: RCV003229698
• dbSNP Id: rs34212204
• gnomAD v2: 16-68853145-T-G
• gnomAD v3: 16-68819242-T-G
• gnomAD v4: 16-68819242-T-G
• MyVariant Identifiers: chr16:g.68853145T>G (hg19) ; chr16:g.68819242T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819242T>G , CM000678.2:g.68819242T>G	GRCh38
NC_000016.9:g.68853145T>G , CM000678.1:g.68853145T>G	GRCh37
NC_000016.8:g.67410646T>G	NCBI36
NG_008021.1:g.86951T>G , LRG_301:g.86951T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1566-38T>G MANE Select	ENSP00000261769.4:n.1566-38T>G
ENST00000261769.9:c.1566-38T>G	ENSP00000261769.4:n.1566-38T>G
ENST00000422392.6:c.1383-38T>G	ENSP00000414946.2:n.1383-38T>G
ENST00000562836.5:n.1637-38T>G
ENST00000566510.5:c.*232-38T>G	ENSP00000458139.1:n.*232-38T>G
ENST00000566612.5:c.1566-2759T>G	ENSP00000454782.1:n.1566-2759T>G
ENST00000611625.4:c.1629-38T>G	ENSP00000481063.1:n.1629-38T>G
ENST00000612417.4:c.1566-38T>G	ENSP00000478360.1:n.1566-38T>G
ENST00000621016.4:c.1566-38T>G	ENSP00000480664.1:n.1566-38T>G
NM_004360.3:c.1566-38T>G , LRG_301t1:c.1566-38T>G	NP_004351.1:n.1566-38T>G
XM_011523488.1:c.831-38T>G	XP_011521790.1:n.831-38T>G
XM_011523489.1:c.831-38T>G	XP_011521791.1:n.831-38T>G
NM_001317184.1:c.1383-38T>G	NP_001304113.1:n.1383-38T>G
NM_001317185.1:c.18-38T>G	NP_001304114.1:n.18-38T>G
NM_001317186.1:c.-254-2759T>G	NP_001304115.1:n.-254-2759T>G
NM_004360.4:c.1566-38T>G	NP_004351.1:n.1566-38T>G
NM_004360.5:c.1566-38T>G MANE Select	NP_004351.1:n.1566-38T>G
NM_001317184.2:c.1383-38T>G	NP_001304113.1:n.1383-38T>G
NM_001317185.2:c.18-38T>G	NP_001304114.1:n.18-38T>G
NM_001317186.2:c.-254-2759T>G	NP_001304115.1:n.-254-2759T>G