Canonical Allele Identifier: CA16615246

Gene: CDH1

Linked Data

• ClinVar Variation Id: 406660
• ClinVar RCV Id: RCV000473023 ; RCV001012782 ; RCV001800674
• dbSNP Id: rs1060501242
• gnomAD v4: 16-68819416-A-G
• MyVariant Identifiers: chr16:g.68853319A>G (hg19) ; chr16:g.68819416A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819416A>G , CM000678.2:g.68819416A>G	GRCh38
NC_000016.9:g.68853319A>G , CM000678.1:g.68853319A>G	GRCh37
NC_000016.8:g.67410820A>G	NCBI36
NG_008021.1:g.87125A>G , LRG_301:g.87125A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1702A>G MANE Select	ENSP00000261769.4:p.Thr568Ala
ENST00000261769.9:c.1702A>G	ENSP00000261769.4:p.Thr568Ala
ENST00000422392.6:c.1519A>G	ENSP00000414946.2:p.Thr507Ala
ENST00000562836.5:n.1773A>G
ENST00000566510.5:c.*368A>G	ENSP00000458139.1:n.*368A>G
ENST00000566612.5:c.1566-2585A>G	ENSP00000454782.1:n.1566-2585A>G
ENST00000611625.4:c.1765A>G	ENSP00000481063.1:p.Thr589Ala
ENST00000612417.4:c.1702A>G	ENSP00000478360.1:p.Thr568Ala
ENST00000621016.4:c.1702A>G	ENSP00000480664.1:p.Thr568Ala
NM_004360.3:c.1702A>G , LRG_301t1:c.1702A>G	NP_004351.1:p.Thr568Ala
XM_011523488.1:c.967A>G	XP_011521790.1:p.Thr323Ala
XM_011523489.1:c.967A>G	XP_011521791.1:p.Thr323Ala
NM_001317184.1:c.1519A>G	NP_001304113.1:p.Thr507Ala
NM_001317185.1:c.154A>G	NP_001304114.1:p.Thr52Ala
NM_001317186.1:c.-254-2585A>G	NP_001304115.1:n.-254-2585A>G
NM_004360.4:c.1702A>G	NP_004351.1:p.Thr568Ala
NM_004360.5:c.1702A>G MANE Select	NP_004351.1:p.Thr568Ala
NM_001317184.2:c.1519A>G	NP_001304113.1:p.Thr507Ala
NM_001317185.2:c.154A>G	NP_001304114.1:p.Thr52Ala
NM_001317186.2:c.-254-2585A>G	NP_001304115.1:n.-254-2585A>G