Canonical Allele Identifier: CA194868

Gene: CDH1

Linked Data

• ClinVar Variation Id: 186454
• ClinVar RCV Id: RCV000166050 ; RCV000529171
• dbSNP Id: rs786202965
• gnomAD v4: 16-68822123-A-G
• MyVariant Identifiers: chr16:g.68856026A>G (hg19) ; chr16:g.68822123A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822123A>G , CM000678.2:g.68822123A>G	GRCh38
NC_000016.9:g.68856026A>G , CM000678.1:g.68856026A>G	GRCh37
NC_000016.8:g.67413527A>G	NCBI36
NG_008021.1:g.89832A>G , LRG_301:g.89832A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1834A>G MANE Select	ENSP00000261769.4:p.Ile612Val
ENST00000261769.9:c.1834A>G	ENSP00000261769.4:p.Ile612Val
ENST00000422392.6:c.1651A>G	ENSP00000414946.2:p.Ile551Val
ENST00000562836.5:n.1905A>G
ENST00000566510.5:c.*500A>G	ENSP00000458139.1:n.*500A>G
ENST00000566612.5:c.*74A>G	ENSP00000454782.1:n.*74A>G
ENST00000611625.4:c.1897A>G	ENSP00000481063.1:p.Ile633Val
ENST00000612417.4:c.1830+4A>G	ENSP00000478360.1:n.1830+4A>G
ENST00000621016.4:c.1834A>G	ENSP00000480664.1:p.Ile612Val
NM_004360.3:c.1834A>G , LRG_301t1:c.1834A>G	NP_004351.1:p.Ile612Val
XM_011523488.1:c.1099A>G	XP_011521790.1:p.Ile367Val
XM_011523489.1:c.1099A>G	XP_011521791.1:p.Ile367Val
NM_001317184.1:c.1651A>G	NP_001304113.1:p.Ile551Val
NM_001317185.1:c.286A>G	NP_001304114.1:p.Ile96Val
NM_001317186.1:c.-132A>G	NP_001304115.1:n.-132A>G
NM_004360.4:c.1834A>G	NP_004351.1:p.Ile612Val
NM_004360.5:c.1834A>G MANE Select	NP_004351.1:p.Ile612Val
NM_001317184.2:c.1651A>G	NP_001304113.1:p.Ile551Val
NM_001317185.2:c.286A>G	NP_001304114.1:p.Ile96Val
NM_001317186.2:c.-132A>G	NP_001304115.1:n.-132A>G