Canonical Allele Identifier: CA281456

Gene: CDH1

Linked Data

• ClinVar Variation Id: 156495
• ClinVar RCV Id: RCV000144589
• dbSNP Id: rs587783046
• MyVariant Identifiers: chr16:g.68842409T>C (hg19) ; chr16:g.68808506T>C (hg38)
• PubMed: PMID:21876083 ; PMID:22799331 ; PMID:22901170 ; PMID:23713947

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808506T>C , CM000678.2:g.68808506T>C	GRCh38
NC_000016.9:g.68842409T>C , CM000678.1:g.68842409T>C	GRCh37
NC_000016.8:g.67399910T>C	NCBI36
NG_008021.1:g.76215T>C , LRG_301:g.76215T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.470T>C MANE Select	ENSP00000261769.4:p.Val157Ala
ENST00000261769.9:c.470T>C	ENSP00000261769.4:p.Val157Ala
ENST00000422392.6:c.470T>C	ENSP00000414946.2:p.Val157Ala
ENST00000561751.1:c.237T>C
ENST00000562836.5:n.541T>C
ENST00000564676.5:n.752T>C
ENST00000564745.1:n.465T>C
ENST00000566510.5:c.470T>C	ENSP00000458139.1:p.Val157Ala
ENST00000566612.5:c.470T>C	ENSP00000454782.1:p.Val157Ala
ENST00000611625.4:c.470T>C	ENSP00000481063.1:p.Val157Ala
ENST00000612417.4:c.470T>C	ENSP00000478360.1:p.Val157Ala
ENST00000621016.4:c.470T>C	ENSP00000480664.1:p.Val157Ala
NM_004360.3:c.470T>C , LRG_301t1:c.470T>C	NP_004351.1:p.Val157Ala
XM_011523488.1:c.-266T>C	XP_011521790.1:n.-266T>C
XM_011523489.1:c.-266T>C	XP_011521791.1:n.-266T>C
NM_001317184.1:c.470T>C	NP_001304113.1:p.Val157Ala
NM_001317185.1:c.-1146T>C	NP_001304114.1:n.-1146T>C
NM_001317186.1:c.-1350T>C	NP_001304115.1:n.-1350T>C
NM_004360.4:c.470T>C	NP_004351.1:p.Val157Ala
NM_004360.5:c.470T>C MANE Select	NP_004351.1:p.Val157Ala
NM_001317184.2:c.470T>C	NP_001304113.1:p.Val157Ala
NM_001317185.2:c.-1146T>C	NP_001304114.1:n.-1146T>C
NM_001317186.2:c.-1350T>C	NP_001304115.1:n.-1350T>C