Canonical Allele Identifier: CA396458788

Gene: CDH1

Linked Data

• ClinVar Variation Id: 479489
• ClinVar RCV Id: RCV000561464 ; RCV002526779 ; RCV003329307
• dbSNP Id: rs876659503
• gnomAD v4: 16-68810302-G-A
• MyVariant Identifiers: chr16:g.68844205G>A (hg19) ; chr16:g.68810302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68810302G>A , CM000678.2:g.68810302G>A	GRCh38
NC_000016.9:g.68844205G>A , CM000678.1:g.68844205G>A	GRCh37
NC_000016.8:g.67401706G>A	NCBI36
NG_008021.1:g.78011G>A , LRG_301:g.78011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.793G>A MANE Select	ENSP00000261769.4:p.Glu265Lys
ENST00000261769.9:c.793G>A	ENSP00000261769.4:p.Glu265Lys
ENST00000422392.6:c.793G>A	ENSP00000414946.2:p.Glu265Lys
ENST00000561751.1:c.455-1382G>A
ENST00000562836.5:n.864G>A
ENST00000566510.5:c.637G>A	ENSP00000458139.1:p.Glu213Lys
ENST00000566612.5:c.793G>A	ENSP00000454782.1:p.Glu265Lys
ENST00000611625.4:c.793G>A	ENSP00000481063.1:p.Glu265Lys
ENST00000612417.4:c.793G>A	ENSP00000478360.1:p.Glu265Lys
ENST00000621016.4:c.793G>A	ENSP00000480664.1:p.Glu265Lys
NM_004360.3:c.793G>A , LRG_301t1:c.793G>A	NP_004351.1:p.Glu265Lys
XM_011523488.1:c.58G>A	XP_011521790.1:p.Glu20Lys
XM_011523489.1:c.58G>A	XP_011521791.1:p.Glu20Lys
NM_001317184.1:c.793G>A	NP_001304113.1:p.Glu265Lys
NM_001317185.1:c.-823G>A	NP_001304114.1:n.-823G>A
NM_001317186.1:c.-1027G>A	NP_001304115.1:n.-1027G>A
NM_004360.4:c.793G>A	NP_004351.1:p.Glu265Lys
NM_004360.5:c.793G>A MANE Select	NP_004351.1:p.Glu265Lys
NM_001317184.2:c.793G>A	NP_001304113.1:p.Glu265Lys
NM_001317185.2:c.-823G>A	NP_001304114.1:n.-823G>A
NM_001317186.2:c.-1027G>A	NP_001304115.1:n.-1027G>A