Canonical Allele Identifier: CA164951

Gene: CDH1

Linked Data

• ClinVar Variation Id: 141264
• ClinVar RCV Id: RCV000129704 ; RCV000792280
• dbSNP Id: rs587781615
• ExAC: 16:68856089 G / A
• gnomAD v2: 16-68856089-G-A
• gnomAD v3: 16-68822186-G-A
• gnomAD v4: 16-68822186-G-A
• MyVariant Identifiers: chr16:g.68856089G>A (hg19) ; chr16:g.68822186G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822186G>A , CM000678.2:g.68822186G>A	GRCh38
NC_000016.9:g.68856089G>A , CM000678.1:g.68856089G>A	GRCh37
NC_000016.8:g.67413590G>A	NCBI36
NG_008021.1:g.89895G>A , LRG_301:g.89895G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1897G>A MANE Select	ENSP00000261769.4:p.Gly633Arg
ENST00000261769.9:c.1897G>A	ENSP00000261769.4:p.Gly633Arg
ENST00000422392.6:c.1714G>A	ENSP00000414946.2:p.Gly572Arg
ENST00000562836.5:n.1968G>A
ENST00000566510.5:c.*563G>A	ENSP00000458139.1:n.*563G>A
ENST00000566612.5:c.*137G>A	ENSP00000454782.1:n.*137G>A
ENST00000611625.4:c.1960G>A	ENSP00000481063.1:p.Gly654Arg
ENST00000612417.4:c.1830+67G>A	ENSP00000478360.1:n.1830+67G>A
ENST00000621016.4:c.1865+32G>A	ENSP00000480664.1:n.1865+32G>A
NM_004360.3:c.1897G>A , LRG_301t1:c.1897G>A	NP_004351.1:p.Gly633Arg
XM_011523488.1:c.1162G>A	XP_011521790.1:p.Gly388Arg
XM_011523489.1:c.1162G>A	XP_011521791.1:p.Gly388Arg
NM_001317184.1:c.1714G>A	NP_001304113.1:p.Gly572Arg
NM_001317185.1:c.349G>A	NP_001304114.1:p.Gly117Arg
NM_001317186.1:c.-69G>A	NP_001304115.1:n.-69G>A
NM_004360.4:c.1897G>A	NP_004351.1:p.Gly633Arg
NM_004360.5:c.1897G>A MANE Select	NP_004351.1:p.Gly633Arg
NM_001317184.2:c.1714G>A	NP_001304113.1:p.Gly572Arg
NM_001317185.2:c.349G>A	NP_001304114.1:p.Gly117Arg
NM_001317186.2:c.-69G>A	NP_001304115.1:n.-69G>A