Canonical Allele Identifier: CA396471207

Gene: CDH1

Linked Data

• ClinVar Variation Id: 532467
• ClinVar RCV Id: RCV000639262 ; RCV001015407 ; RCV003459531
• dbSNP Id: rs370345996
• gnomAD v4: 16-68829757-G-T
• MyVariant Identifiers: chr16:g.68863660G>T (hg19) ; chr16:g.68829757G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829757G>T , CM000678.2:g.68829757G>T	GRCh38
NC_000016.9:g.68863660G>T , CM000678.1:g.68863660G>T	GRCh37
NC_000016.8:g.67421161G>T	NCBI36
NG_008021.1:g.97466G>T , LRG_301:g.97466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2399G>T MANE Select	ENSP00000261769.4:p.Arg800Leu
ENST00000261769.9:c.2399G>T	ENSP00000261769.4:p.Arg800Leu
ENST00000422392.6:c.2216G>T	ENSP00000414946.2:p.Arg739Leu
ENST00000562118.1:n.617G>T
ENST00000562836.5:n.2470G>T
ENST00000566510.5:c.*1065G>T	ENSP00000458139.1:n.*1065G>T
ENST00000566612.5:c.*639G>T	ENSP00000454782.1:n.*639G>T
ENST00000611625.4:c.2462G>T	ENSP00000481063.1:p.Arg821Leu
ENST00000612417.4:c.1853+3203G>T	ENSP00000478360.1:n.1853+3203G>T
ENST00000621016.4:c.1866-4446G>T	ENSP00000480664.1:n.1866-4446G>T
NM_004360.3:c.2399G>T , LRG_301t1:c.2399G>T	NP_004351.1:p.Arg800Leu
XM_011523488.1:c.1664G>T	XP_011521790.1:p.Arg555Leu
XM_011523489.1:c.1664G>T	XP_011521791.1:p.Arg555Leu
NM_001317184.1:c.2216G>T	NP_001304113.1:p.Arg739Leu
NM_001317185.1:c.851G>T	NP_001304114.1:p.Arg284Leu
NM_001317186.1:c.434G>T	NP_001304115.1:p.Arg145Leu
NM_004360.4:c.2399G>T	NP_004351.1:p.Arg800Leu
NM_004360.5:c.2399G>T MANE Select	NP_004351.1:p.Arg800Leu
NM_001317184.2:c.2216G>T	NP_001304113.1:p.Arg739Leu
NM_001317185.2:c.851G>T	NP_001304114.1:p.Arg284Leu
NM_001317186.2:c.434G>T	NP_001304115.1:p.Arg145Leu