Canonical Allele Identifier: CA16615395

Gene: CDH1

Linked Data

• ClinVar Variation Id: 414051
• ClinVar RCV Id: RCV001706642
• dbSNP Id: rs1060504173
• gnomAD v3: 16-68819325-G-A
• gnomAD v4: 16-68819325-G-A
• MyVariant Identifiers: chr16:g.68853228G>A (hg19) ; chr16:g.68819325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819325G>A , CM000678.2:g.68819325G>A	GRCh38
NC_000016.9:g.68853228G>A , CM000678.1:g.68853228G>A	GRCh37
NC_000016.8:g.67410729G>A	NCBI36
NG_008021.1:g.87034G>A , LRG_301:g.87034G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1611G>A MANE Select	ENSP00000261769.4:p.Pro537=
ENST00000261769.9:c.1611G>A	ENSP00000261769.4:p.Pro537=
ENST00000422392.6:c.1428G>A	ENSP00000414946.2:p.Pro476=
ENST00000562836.5:n.1682G>A
ENST00000566510.5:c.*277G>A	ENSP00000458139.1:n.*277G>A
ENST00000566612.5:c.1566-2676G>A	ENSP00000454782.1:n.1566-2676G>A
ENST00000611625.4:c.1674G>A	ENSP00000481063.1:p.Pro558=
ENST00000612417.4:c.1611G>A	ENSP00000478360.1:p.Pro537=
ENST00000621016.4:c.1611G>A	ENSP00000480664.1:p.Pro537=
NM_004360.3:c.1611G>A , LRG_301t1:c.1611G>A	NP_004351.1:p.Pro537=
XM_011523488.1:c.876G>A	XP_011521790.1:p.Pro292=
XM_011523489.1:c.876G>A	XP_011521791.1:p.Pro292=
NM_001317184.1:c.1428G>A	NP_001304113.1:p.Pro476=
NM_001317185.1:c.63G>A	NP_001304114.1:p.Pro21=
NM_001317186.1:c.-254-2676G>A	NP_001304115.1:n.-254-2676G>A
NM_004360.4:c.1611G>A	NP_004351.1:p.Pro537=
NM_004360.5:c.1611G>A MANE Select	NP_004351.1:p.Pro537=
NM_001317184.2:c.1428G>A	NP_001304113.1:p.Pro476=
NM_001317185.2:c.63G>A	NP_001304114.1:p.Pro21=
NM_001317186.2:c.-254-2676G>A	NP_001304115.1:n.-254-2676G>A