Canonical Allele Identifier: CA396470934

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2567620
• ClinVar RCV Id: RCV003311332
• dbSNP Id: rs587781311
• MyVariant Identifiers: chr16:g.68863597G>T (hg19) ; chr16:g.68829694G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829694G>T , CM000678.2:g.68829694G>T	GRCh38
NC_000016.9:g.68863597G>T , CM000678.1:g.68863597G>T	GRCh37
NC_000016.8:g.67421098G>T	NCBI36
NG_008021.1:g.97403G>T , LRG_301:g.97403G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2336G>T MANE Select	ENSP00000261769.4:p.Arg779Leu
ENST00000261769.9:c.2336G>T	ENSP00000261769.4:p.Arg779Leu
ENST00000422392.6:c.2153G>T	ENSP00000414946.2:p.Arg718Leu
ENST00000562118.1:n.554G>T
ENST00000562836.5:n.2407G>T
ENST00000566510.5:c.*1002G>T	ENSP00000458139.1:n.*1002G>T
ENST00000566612.5:c.*576G>T	ENSP00000454782.1:n.*576G>T
ENST00000611625.4:c.2399G>T	ENSP00000481063.1:p.Arg800Leu
ENST00000612417.4:c.1853+3140G>T	ENSP00000478360.1:n.1853+3140G>T
ENST00000621016.4:c.1866-4509G>T	ENSP00000480664.1:n.1866-4509G>T
NM_004360.3:c.2336G>T , LRG_301t1:c.2336G>T	NP_004351.1:p.Arg779Leu
XM_011523488.1:c.1601G>T	XP_011521790.1:p.Arg534Leu
XM_011523489.1:c.1601G>T	XP_011521791.1:p.Arg534Leu
NM_001317184.1:c.2153G>T	NP_001304113.1:p.Arg718Leu
NM_001317185.1:c.788G>T	NP_001304114.1:p.Arg263Leu
NM_001317186.1:c.371G>T	NP_001304115.1:p.Arg124Leu
NM_004360.4:c.2336G>T	NP_004351.1:p.Arg779Leu
NM_004360.5:c.2336G>T MANE Select	NP_004351.1:p.Arg779Leu
NM_001317184.2:c.2153G>T	NP_001304113.1:p.Arg718Leu
NM_001317185.2:c.788G>T	NP_001304114.1:p.Arg263Leu
NM_001317186.2:c.371G>T	NP_001304115.1:p.Arg124Leu