Canonical Allele Identifier: CA396462929

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1771902
• ClinVar RCV Id: RCV002389379 ; RCV003624486
• dbSNP Id: rs2152134847
• MyVariant Identifiers: chr16:g.68849503C>G (hg19) ; chr16:g.68815600C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815600C>G , CM000678.2:g.68815600C>G	GRCh38
NC_000016.9:g.68849503C>G , CM000678.1:g.68849503C>G	GRCh37
NC_000016.8:g.67407004C>G	NCBI36
NG_008021.1:g.83309C>G , LRG_301:g.83309C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1406C>G MANE Select	ENSP00000261769.4:p.Ser469Cys
ENST00000261769.9:c.1406C>G	ENSP00000261769.4:p.Ser469Cys
ENST00000422392.6:c.1223C>G	ENSP00000414946.2:p.Ser408Cys
ENST00000562836.5:n.1477C>G
ENST00000566510.5:c.*72C>G	ENSP00000458139.1:n.*72C>G
ENST00000566612.5:c.1406C>G	ENSP00000454782.1:p.Ser469Cys
ENST00000611625.4:c.1469C>G	ENSP00000481063.1:p.Ser490Cys
ENST00000612417.4:c.1406C>G	ENSP00000478360.1:p.Ser469Cys
ENST00000621016.4:c.1406C>G	ENSP00000480664.1:p.Ser469Cys
NM_004360.3:c.1406C>G , LRG_301t1:c.1406C>G	NP_004351.1:p.Ser469Cys
XM_011523488.1:c.671C>G	XP_011521790.1:p.Ser224Cys
XM_011523489.1:c.671C>G	XP_011521791.1:p.Ser224Cys
NM_001317184.1:c.1223C>G	NP_001304113.1:p.Ser408Cys
NM_001317185.1:c.-143C>G	NP_001304114.1:n.-143C>G
NM_001317186.1:c.-414C>G	NP_001304115.1:n.-414C>G
NM_004360.4:c.1406C>G	NP_004351.1:p.Ser469Cys
NM_004360.5:c.1406C>G MANE Select	NP_004351.1:p.Ser469Cys
NM_001317184.2:c.1223C>G	NP_001304113.1:p.Ser408Cys
NM_001317185.2:c.-143C>G	NP_001304114.1:n.-143C>G
NM_001317186.2:c.-414C>G	NP_001304115.1:n.-414C>G