Canonical Allele Identifier: CA168677

Gene: CDH1

Linked Data

• ClinVar Variation Id: 142546
• ClinVar RCV Id: RCV000131738 ; RCV000204503 ; RCV000221311 ; RCV001194008 ; RCV003891670 ; RCV003328227
• dbSNP Id: rs142498771
• ExAC: 16:68842333 G / A
• gnomAD v2: 16-68842333-G-A
• gnomAD v3: 16-68808430-G-A
• gnomAD v4: 16-68808430-G-A
• COSMIC: COSM1379141
• MyVariant Identifiers: chr16:g.68842333G>A (hg19) ; chr16:g.68808430G>A (hg38)
• ERepo: CA168677/MONDO:0100488/007
• PubMed: PMID:25186627

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808430G>A , CM000678.2:g.68808430G>A	GRCh38
NC_000016.9:g.68842333G>A , CM000678.1:g.68842333G>A	GRCh37
NC_000016.8:g.67399834G>A	NCBI36
NG_008021.1:g.76139G>A , LRG_301:g.76139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.394G>A MANE Select	ENSP00000261769.4:p.Val132Ile
ENST00000261769.9:c.394G>A	ENSP00000261769.4:p.Val132Ile
ENST00000422392.6:c.394G>A	ENSP00000414946.2:p.Val132Ile
ENST00000561751.1:c.161G>A
ENST00000562836.5:n.465G>A
ENST00000564676.5:n.676G>A
ENST00000564745.1:n.389G>A
ENST00000566510.5:c.394G>A	ENSP00000458139.1:p.Val132Ile
ENST00000566612.5:c.394G>A	ENSP00000454782.1:p.Val132Ile
ENST00000611625.4:c.394G>A	ENSP00000481063.1:p.Val132Ile
ENST00000612417.4:c.394G>A	ENSP00000478360.1:p.Val132Ile
ENST00000621016.4:c.394G>A	ENSP00000480664.1:p.Val132Ile
NM_004360.3:c.394G>A , LRG_301t1:c.394G>A	NP_004351.1:p.Val132Ile
XM_011523488.1:c.-342G>A	XP_011521790.1:n.-342G>A
XM_011523489.1:c.-342G>A	XP_011521791.1:n.-342G>A
NM_001317184.1:c.394G>A	NP_001304113.1:p.Val132Ile
NM_001317185.1:c.-1222G>A	NP_001304114.1:n.-1222G>A
NM_001317186.1:c.-1426G>A	NP_001304115.1:n.-1426G>A
NM_004360.4:c.394G>A	NP_004351.1:p.Val132Ile
NM_004360.5:c.394G>A MANE Select	NP_004351.1:p.Val132Ile
NM_001317184.2:c.394G>A	NP_001304113.1:p.Val132Ile
NM_001317185.2:c.-1222G>A	NP_001304114.1:n.-1222G>A
NM_001317186.2:c.-1426G>A	NP_001304115.1:n.-1426G>A