Canonical Allele Identifier: CA169831

Gene: CDH1

Linked Data

• ClinVar Variation Id: 142943
• ClinVar RCV Id: RCV000132427 ; RCV000214623 ; RCV000701176
• dbSNP Id: rs587782838
• MyVariant Identifiers: chr16:g.68856032A>G (hg19) ; chr16:g.68822129A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822129A>G , CM000678.2:g.68822129A>G	GRCh38
NC_000016.9:g.68856032A>G , CM000678.1:g.68856032A>G	GRCh37
NC_000016.8:g.67413533A>G	NCBI36
NG_008021.1:g.89838A>G , LRG_301:g.89838A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1840A>G MANE Select	ENSP00000261769.4:p.Ile614Val
ENST00000261769.9:c.1840A>G	ENSP00000261769.4:p.Ile614Val
ENST00000422392.6:c.1657A>G	ENSP00000414946.2:p.Ile553Val
ENST00000562836.5:n.1911A>G
ENST00000566510.5:c.*506A>G	ENSP00000458139.1:n.*506A>G
ENST00000566612.5:c.*80A>G	ENSP00000454782.1:n.*80A>G
ENST00000611625.4:c.1903A>G	ENSP00000481063.1:p.Ile635Val
ENST00000612417.4:c.1830+10A>G	ENSP00000478360.1:n.1830+10A>G
ENST00000621016.4:c.1840A>G	ENSP00000480664.1:p.Ile614Val
NM_004360.3:c.1840A>G , LRG_301t1:c.1840A>G	NP_004351.1:p.Ile614Val
XM_011523488.1:c.1105A>G	XP_011521790.1:p.Ile369Val
XM_011523489.1:c.1105A>G	XP_011521791.1:p.Ile369Val
NM_001317184.1:c.1657A>G	NP_001304113.1:p.Ile553Val
NM_001317185.1:c.292A>G	NP_001304114.1:p.Ile98Val
NM_001317186.1:c.-126A>G	NP_001304115.1:n.-126A>G
NM_004360.4:c.1840A>G	NP_004351.1:p.Ile614Val
NM_004360.5:c.1840A>G MANE Select	NP_004351.1:p.Ile614Val
NM_001317184.2:c.1657A>G	NP_001304113.1:p.Ile553Val
NM_001317185.2:c.292A>G	NP_001304114.1:p.Ile98Val
NM_001317186.2:c.-126A>G	NP_001304115.1:n.-126A>G