Canonical Allele Identifier: CA396467162

Gene: CDH1

Linked Data

• ClinVar Variation Id: 950826
• ClinVar RCV Id: RCV001222627
• dbSNP Id: rs1961168795
• gnomAD v4: 16-68822183-C-T
• MyVariant Identifiers: chr16:g.68856086C>T (hg19) ; chr16:g.68822183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822183C>T , CM000678.2:g.68822183C>T	GRCh38
NC_000016.9:g.68856086C>T , CM000678.1:g.68856086C>T	GRCh37
NC_000016.8:g.67413587C>T	NCBI36
NG_008021.1:g.89892C>T , LRG_301:g.89892C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1894C>T MANE Select	ENSP00000261769.4:p.His632Tyr
ENST00000261769.9:c.1894C>T	ENSP00000261769.4:p.His632Tyr
ENST00000422392.6:c.1711C>T	ENSP00000414946.2:p.His571Tyr
ENST00000562836.5:n.1965C>T
ENST00000566510.5:c.*560C>T	ENSP00000458139.1:n.*560C>T
ENST00000566612.5:c.*134C>T	ENSP00000454782.1:n.*134C>T
ENST00000611625.4:c.1957C>T	ENSP00000481063.1:p.His653Tyr
ENST00000612417.4:c.1830+64C>T	ENSP00000478360.1:n.1830+64C>T
ENST00000621016.4:c.1865+29C>T	ENSP00000480664.1:n.1865+29C>T
NM_004360.3:c.1894C>T , LRG_301t1:c.1894C>T	NP_004351.1:p.His632Tyr
XM_011523488.1:c.1159C>T	XP_011521790.1:p.His387Tyr
XM_011523489.1:c.1159C>T	XP_011521791.1:p.His387Tyr
NM_001317184.1:c.1711C>T	NP_001304113.1:p.His571Tyr
NM_001317185.1:c.346C>T	NP_001304114.1:p.His116Tyr
NM_001317186.1:c.-72C>T	NP_001304115.1:n.-72C>T
NM_004360.4:c.1894C>T	NP_004351.1:p.His632Tyr
NM_004360.5:c.1894C>T MANE Select	NP_004351.1:p.His632Tyr
NM_001317184.2:c.1711C>T	NP_001304113.1:p.His571Tyr
NM_001317185.2:c.346C>T	NP_001304114.1:p.His116Tyr
NM_001317186.2:c.-72C>T	NP_001304115.1:n.-72C>T