Canonical Allele Identifier: CA16614968

Gene: CDH1

Linked Data

• ClinVar Variation Id: 406622
• ClinVar RCV Id: RCV003328341
• dbSNP Id: rs587780113
• gnomAD v4: 16-68815760-G-C
• MyVariant Identifiers: chr16:g.68849663G>C (hg19) ; chr16:g.68815760G>C (hg38)
• PubMed: PMID:11968084 ; PMID:18046629 ; PMID:27064202
• ERepo: CA16614968/MONDO:0007648/007 ; CA16614968/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815760G>C , CM000678.2:g.68815760G>C	GRCh38
NC_000016.9:g.68849663G>C , CM000678.1:g.68849663G>C	GRCh37
NC_000016.8:g.67407164G>C	NCBI36
NG_008021.1:g.83469G>C , LRG_301:g.83469G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1565+1G>C MANE Select	ENSP00000261769.4:n.1565+1G>C
ENST00000261769.9:c.1565+1G>C	ENSP00000261769.4:n.1565+1G>C
ENST00000422392.6:c.1382+1G>C	ENSP00000414946.2:n.1382+1G>C
ENST00000562836.5:n.1636+1G>C
ENST00000566510.5:c.*231+1G>C	ENSP00000458139.1:n.*231+1G>C
ENST00000566612.5:c.1565+1G>C	ENSP00000454782.1:n.1565+1G>C
ENST00000611625.4:c.1628+1G>C	ENSP00000481063.1:n.1628+1G>C
ENST00000612417.4:c.1565+1G>C	ENSP00000478360.1:n.1565+1G>C
ENST00000621016.4:c.1565+1G>C	ENSP00000480664.1:n.1565+1G>C
NM_004360.3:c.1565+1G>C , LRG_301t1:c.1565+1G>C	NP_004351.1:n.1565+1G>C
XM_011523488.1:c.830+1G>C	XP_011521790.1:n.830+1G>C
XM_011523489.1:c.830+1G>C	XP_011521791.1:n.830+1G>C
NM_001317184.1:c.1382+1G>C	NP_001304113.1:n.1382+1G>C
NM_001317185.1:c.17+1G>C	NP_001304114.1:n.17+1G>C
NM_001317186.1:c.-255+1G>C	NP_001304115.1:n.-255+1G>C
NM_004360.4:c.1565+1G>C	NP_004351.1:n.1565+1G>C
NM_004360.5:c.1565+1G>C MANE Select	NP_004351.1:n.1565+1G>C
NM_001317184.2:c.1382+1G>C	NP_001304113.1:n.1382+1G>C
NM_001317185.2:c.17+1G>C	NP_001304114.1:n.17+1G>C
NM_001317186.2:c.-255+1G>C	NP_001304115.1:n.-255+1G>C