Canonical Allele Identifier: CA336275

Gene: CDH1

Linked Data

• ClinVar Variation Id: 215833
• ClinVar RCV Id: RCV000431343 ; RCV000581165 ; RCV000679564 ; RCV001082470
• dbSNP Id: rs368770384
• ExAC: 16:68853337 G / A
• gnomAD v2: 16-68853337-G-A
• gnomAD v3: 16-68819434-G-A
• gnomAD v4: 16-68819434-G-A
• MyVariant Identifiers: chr16:g.68853337G>A (hg19) ; chr16:g.68819434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819434G>A , CM000678.2:g.68819434G>A	GRCh38
NC_000016.9:g.68853337G>A , CM000678.1:g.68853337G>A	GRCh37
NC_000016.8:g.67410838G>A	NCBI36
NG_008021.1:g.87143G>A , LRG_301:g.87143G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1711+9G>A MANE Select	ENSP00000261769.4:n.1711+9G>A
ENST00000261769.9:c.1711+9G>A	ENSP00000261769.4:n.1711+9G>A
ENST00000422392.6:c.1528+9G>A	ENSP00000414946.2:n.1528+9G>A
ENST00000562836.5:n.1782+9G>A
ENST00000566510.5:c.*377+9G>A	ENSP00000458139.1:n.*377+9G>A
ENST00000566612.5:c.1566-2567G>A	ENSP00000454782.1:n.1566-2567G>A
ENST00000611625.4:c.1774+9G>A	ENSP00000481063.1:n.1774+9G>A
ENST00000612417.4:c.1711+9G>A	ENSP00000478360.1:n.1711+9G>A
ENST00000621016.4:c.1711+9G>A	ENSP00000480664.1:n.1711+9G>A
NM_004360.3:c.1711+9G>A , LRG_301t1:c.1711+9G>A	NP_004351.1:n.1711+9G>A
XM_011523488.1:c.976+9G>A	XP_011521790.1:n.976+9G>A
XM_011523489.1:c.976+9G>A	XP_011521791.1:n.976+9G>A
NM_001317184.1:c.1528+9G>A	NP_001304113.1:n.1528+9G>A
NM_001317185.1:c.163+9G>A	NP_001304114.1:n.163+9G>A
NM_001317186.1:c.-254-2567G>A	NP_001304115.1:n.-254-2567G>A
NM_004360.4:c.1711+9G>A	NP_004351.1:n.1711+9G>A
NM_004360.5:c.1711+9G>A MANE Select	NP_004351.1:n.1711+9G>A
NM_001317184.2:c.1528+9G>A	NP_001304113.1:n.1528+9G>A
NM_001317185.2:c.163+9G>A	NP_001304114.1:n.163+9G>A
NM_001317186.2:c.-254-2567G>A	NP_001304115.1:n.-254-2567G>A