Canonical Allele Identifier: CA396470746

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1460595
• ClinVar RCV Id: RCV001963347
• dbSNP Id: rs2152142212
• MyVariant Identifiers: chr16:g.68863560T>A (hg19) ; chr16:g.68829657T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829657T>A , CM000678.2:g.68829657T>A	GRCh38
NC_000016.9:g.68863560T>A , CM000678.1:g.68863560T>A	GRCh37
NC_000016.8:g.67421061T>A	NCBI36
NG_008021.1:g.97366T>A , LRG_301:g.97366T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2299T>A MANE Select	ENSP00000261769.4:p.Phe767Ile
ENST00000261769.9:c.2299T>A	ENSP00000261769.4:p.Phe767Ile
ENST00000422392.6:c.2116T>A	ENSP00000414946.2:p.Phe706Ile
ENST00000562118.1:n.517T>A
ENST00000562836.5:n.2370T>A
ENST00000566510.5:c.*965T>A	ENSP00000458139.1:n.*965T>A
ENST00000566612.5:c.*539T>A	ENSP00000454782.1:n.*539T>A
ENST00000611625.4:c.2362T>A	ENSP00000481063.1:p.Phe788Ile
ENST00000612417.4:c.1853+3103T>A	ENSP00000478360.1:n.1853+3103T>A
ENST00000621016.4:c.1866-4546T>A	ENSP00000480664.1:n.1866-4546T>A
NM_004360.3:c.2299T>A , LRG_301t1:c.2299T>A	NP_004351.1:p.Phe767Ile
XM_011523488.1:c.1564T>A	XP_011521790.1:p.Phe522Ile
XM_011523489.1:c.1564T>A	XP_011521791.1:p.Phe522Ile
NM_001317184.1:c.2116T>A	NP_001304113.1:p.Phe706Ile
NM_001317185.1:c.751T>A	NP_001304114.1:p.Phe251Ile
NM_001317186.1:c.334T>A	NP_001304115.1:p.Phe112Ile
NM_004360.4:c.2299T>A	NP_004351.1:p.Phe767Ile
NM_004360.5:c.2299T>A MANE Select	NP_004351.1:p.Phe767Ile
NM_001317184.2:c.2116T>A	NP_001304113.1:p.Phe706Ile
NM_001317185.2:c.751T>A	NP_001304114.1:p.Phe251Ile
NM_001317186.2:c.334T>A	NP_001304115.1:p.Phe112Ile