Canonical Allele Identifier: CA10580139

Gene: CDH1

Linked Data

• ClinVar Variation Id: 232981
• ClinVar RCV Id: RCV000214635 ; RCV000486533 ; RCV000696378
• dbSNP Id: rs876660113
• gnomAD v4: 16-68822211-A-G
• MyVariant Identifiers: chr16:g.68856114A>G (hg19) ; chr16:g.68822211A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822211A>G , CM000678.2:g.68822211A>G	GRCh38
NC_000016.9:g.68856114A>G , CM000678.1:g.68856114A>G	GRCh37
NC_000016.8:g.67413615A>G	NCBI36
NG_008021.1:g.89920A>G , LRG_301:g.89920A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1922A>G MANE Select	ENSP00000261769.4:p.Gln641Arg
ENST00000261769.9:c.1922A>G	ENSP00000261769.4:p.Gln641Arg
ENST00000422392.6:c.1739A>G	ENSP00000414946.2:p.Gln580Arg
ENST00000562836.5:n.1993A>G
ENST00000566510.5:c.*588A>G	ENSP00000458139.1:n.*588A>G
ENST00000566612.5:c.*162A>G	ENSP00000454782.1:n.*162A>G
ENST00000611625.4:c.1985A>G	ENSP00000481063.1:p.Gln662Arg
ENST00000612417.4:c.1830+92A>G	ENSP00000478360.1:n.1830+92A>G
ENST00000621016.4:c.1865+57A>G	ENSP00000480664.1:n.1865+57A>G
NM_004360.3:c.1922A>G , LRG_301t1:c.1922A>G	NP_004351.1:p.Gln641Arg
XM_011523488.1:c.1187A>G	XP_011521790.1:p.Gln396Arg
XM_011523489.1:c.1187A>G	XP_011521791.1:p.Gln396Arg
NM_001317184.1:c.1739A>G	NP_001304113.1:p.Gln580Arg
NM_001317185.1:c.374A>G	NP_001304114.1:p.Gln125Arg
NM_001317186.1:c.-44A>G	NP_001304115.1:n.-44A>G
NM_004360.4:c.1922A>G	NP_004351.1:p.Gln641Arg
NM_004360.5:c.1922A>G MANE Select	NP_004351.1:p.Gln641Arg
NM_001317184.2:c.1739A>G	NP_001304113.1:p.Gln580Arg
NM_001317185.2:c.374A>G	NP_001304114.1:p.Gln125Arg
NM_001317186.2:c.-44A>G	NP_001304115.1:n.-44A>G