Canonical Allele Identifier: CA280990

Gene: CDH1

Linked Data

• ClinVar Variation Id: 18453
• ClinVar RCV Id: RCV000013022 ; RCV000572541
• dbSNP Id: rs267606712
• MyVariant Identifiers: chr16:g.68845762G>T (hg19) ; chr16:g.68811859G>T (hg38)
• ERepo: CA280990/MONDO:0007648/007 ; CA280990/MONDO:0100488/007
• PubMed: PMID:8127895 ; PMID:9537325 ; PMID:14158754 ; PMID:19223545 ; PMID:22225527 ; PMID:23709761

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68811859G>T , CM000678.2:g.68811859G>T	GRCh38
NC_000016.9:g.68845762G>T , CM000678.1:g.68845762G>T	GRCh37
NC_000016.8:g.67403263G>T	NCBI36
NG_008021.1:g.79568G>T , LRG_301:g.79568G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1008G>T MANE Select	ENSP00000261769.4:p.Glu336Asp
ENST00000261769.9:c.1008G>T	ENSP00000261769.4:p.Glu336Asp
ENST00000422392.6:c.1008G>T	ENSP00000414946.2:p.Glu336Asp
ENST00000561751.1:c.630G>T
ENST00000562836.5:n.1079G>T
ENST00000566510.5:c.852G>T	ENSP00000458139.1:p.Glu284Asp
ENST00000566612.5:c.1008G>T	ENSP00000454782.1:p.Glu336Asp
ENST00000611625.4:c.1008G>T	ENSP00000481063.1:p.Glu336Asp
ENST00000612417.4:c.1008G>T	ENSP00000478360.1:p.Glu336Asp
ENST00000621016.4:c.1008G>T	ENSP00000480664.1:p.Glu336Asp
NM_004360.3:c.1008G>T , LRG_301t1:c.1008G>T	NP_004351.1:p.Glu336Asp
XM_011523488.1:c.273G>T	XP_011521790.1:p.Glu91Asp
XM_011523489.1:c.273G>T	XP_011521791.1:p.Glu91Asp
NM_001317184.1:c.1008G>T	NP_001304113.1:p.Glu336Asp
NM_001317185.1:c.-608G>T	NP_001304114.1:n.-608G>T
NM_001317186.1:c.-812G>T	NP_001304115.1:n.-812G>T
NM_004360.4:c.1008G>T	NP_004351.1:p.Glu336Asp
NM_004360.5:c.1008G>T MANE Select	NP_004351.1:p.Glu336Asp
NM_001317184.2:c.1008G>T	NP_001304113.1:p.Glu336Asp
NM_001317185.2:c.-608G>T	NP_001304114.1:n.-608G>T
NM_001317186.2:c.-812G>T	NP_001304115.1:n.-812G>T