Canonical Allele Identifier: CA496392583

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1608842
• ClinVar RCV Id: RCV002147743
• dbSNP Id: rs2152138351
• MyVariant Identifiers: chr16:g.68856004G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822101G>A , CM000678.2:g.68822101G>A	GRCh38
NC_000016.9:g.68856004G>A , CM000678.1:g.68856004G>A	GRCh37
NC_000016.8:g.67413505G>A	NCBI36
NG_008021.1:g.89810G>A , LRG_301:g.89810G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1812G>A MANE Select	ENSP00000261769.4:p.Glu604=
ENST00000261769.9:c.1812G>A	ENSP00000261769.4:p.Glu604=
ENST00000422392.6:c.1629G>A	ENSP00000414946.2:p.Glu543=
ENST00000562836.5:n.1883G>A
ENST00000566510.5:c.*478G>A	ENSP00000458139.1:n.*478G>A
ENST00000566612.5:c.*52G>A	ENSP00000454782.1:n.*52G>A
ENST00000611625.4:c.1875G>A	ENSP00000481063.1:p.Glu625=
ENST00000612417.4:c.1812G>A	ENSP00000478360.1:p.Glu604=
ENST00000621016.4:c.1812G>A	ENSP00000480664.1:p.Glu604=
NM_004360.3:c.1812G>A , LRG_301t1:c.1812G>A	NP_004351.1:p.Glu604=
XM_011523488.1:c.1077G>A	XP_011521790.1:p.Glu359=
XM_011523489.1:c.1077G>A	XP_011521791.1:p.Glu359=
NM_001317184.1:c.1629G>A	NP_001304113.1:p.Glu543=
NM_001317185.1:c.264G>A	NP_001304114.1:p.Glu88=
NM_001317186.1:c.-154G>A	NP_001304115.1:n.-154G>A
NM_004360.4:c.1812G>A	NP_004351.1:p.Glu604=
NM_004360.5:c.1812G>A MANE Select	NP_004351.1:p.Glu604=
NM_001317184.2:c.1629G>A	NP_001304113.1:p.Glu543=
NM_001317185.2:c.264G>A	NP_001304114.1:p.Glu88=
NM_001317186.2:c.-154G>A	NP_001304115.1:n.-154G>A