Canonical Allele Identifier: CA396465213

Gene: CDH1

Linked Data

• ClinVar Variation Id: 819744
• ClinVar RCV Id: RCV001012566 ; RCV001221320 ; RCV002462257
• dbSNP Id: rs771649648
• gnomAD v4: 16-68819363-G-A
• MyVariant Identifiers: chr16:g.68853266G>A (hg19) ; chr16:g.68819363G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819363G>A , CM000678.2:g.68819363G>A	GRCh38
NC_000016.9:g.68853266G>A , CM000678.1:g.68853266G>A	GRCh37
NC_000016.8:g.67410767G>A	NCBI36
NG_008021.1:g.87072G>A , LRG_301:g.87072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1649G>A MANE Select	ENSP00000261769.4:p.Arg550Lys
ENST00000261769.9:c.1649G>A	ENSP00000261769.4:p.Arg550Lys
ENST00000422392.6:c.1466G>A	ENSP00000414946.2:p.Arg489Lys
ENST00000562836.5:n.1720G>A
ENST00000566510.5:c.*315G>A	ENSP00000458139.1:n.*315G>A
ENST00000566612.5:c.1566-2638G>A	ENSP00000454782.1:n.1566-2638G>A
ENST00000611625.4:c.1712G>A	ENSP00000481063.1:p.Arg571Lys
ENST00000612417.4:c.1649G>A	ENSP00000478360.1:p.Arg550Lys
ENST00000621016.4:c.1649G>A	ENSP00000480664.1:p.Arg550Lys
NM_004360.3:c.1649G>A , LRG_301t1:c.1649G>A	NP_004351.1:p.Arg550Lys
XM_011523488.1:c.914G>A	XP_011521790.1:p.Arg305Lys
XM_011523489.1:c.914G>A	XP_011521791.1:p.Arg305Lys
NM_001317184.1:c.1466G>A	NP_001304113.1:p.Arg489Lys
NM_001317185.1:c.101G>A	NP_001304114.1:p.Arg34Lys
NM_001317186.1:c.-254-2638G>A	NP_001304115.1:n.-254-2638G>A
NM_004360.4:c.1649G>A	NP_004351.1:p.Arg550Lys
NM_004360.5:c.1649G>A MANE Select	NP_004351.1:p.Arg550Lys
NM_001317184.2:c.1466G>A	NP_001304113.1:p.Arg489Lys
NM_001317185.2:c.101G>A	NP_001304114.1:p.Arg34Lys
NM_001317186.2:c.-254-2638G>A	NP_001304115.1:n.-254-2638G>A