Canonical Allele Identifier: CA396466273

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2701129
• ClinVar RCV Id: RCV003512450
• dbSNP Id: rs1961156636
• MyVariant Identifiers: chr16:g.68855921G>A (hg19) ; chr16:g.68822018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822018G>A , CM000678.2:g.68822018G>A	GRCh38
NC_000016.9:g.68855921G>A , CM000678.1:g.68855921G>A	GRCh37
NC_000016.8:g.67413422G>A	NCBI36
NG_008021.1:g.89727G>A , LRG_301:g.89727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1729G>A MANE Select	ENSP00000261769.4:p.Gly577Arg
ENST00000261769.9:c.1729G>A	ENSP00000261769.4:p.Gly577Arg
ENST00000422392.6:c.1546G>A	ENSP00000414946.2:p.Gly516Arg
ENST00000562836.5:n.1800G>A
ENST00000566510.5:c.*395G>A	ENSP00000458139.1:n.*395G>A
ENST00000566612.5:c.1583G>A	ENSP00000454782.1:p.Trp528Ter
ENST00000611625.4:c.1792G>A	ENSP00000481063.1:p.Gly598Arg
ENST00000612417.4:c.1729G>A	ENSP00000478360.1:p.Gly577Arg
ENST00000621016.4:c.1729G>A	ENSP00000480664.1:p.Gly577Arg
NM_004360.3:c.1729G>A , LRG_301t1:c.1729G>A	NP_004351.1:p.Gly577Arg
XM_011523488.1:c.994G>A	XP_011521790.1:p.Gly332Arg
XM_011523489.1:c.994G>A	XP_011521791.1:p.Gly332Arg
NM_001317184.1:c.1546G>A	NP_001304113.1:p.Gly516Arg
NM_001317185.1:c.181G>A	NP_001304114.1:p.Gly61Arg
NM_001317186.1:c.-237G>A	NP_001304115.1:n.-237G>A
NM_004360.4:c.1729G>A	NP_004351.1:p.Gly577Arg
NM_004360.5:c.1729G>A MANE Select	NP_004351.1:p.Gly577Arg
NM_001317184.2:c.1546G>A	NP_001304113.1:p.Gly516Arg
NM_001317185.2:c.181G>A	NP_001304114.1:p.Gly61Arg
NM_001317186.2:c.-237G>A	NP_001304115.1:n.-237G>A