Canonical Allele Identifier: CA190198

Gene: CDH1

Linked Data

• ClinVar Variation Id: 184838
• ClinVar RCV Id: RCV000164164 ; RCV000479339 ; RCV001030617 ; RCV001194010 ; RCV000989628 ; RCV001355037 ; RCV003895125 ; RCV003993846
• dbSNP Id: rs34507583
• ExAC: 16:68867391 G / A
• gnomAD v2: 16-68867391-G-A
• gnomAD v3: 16-68833488-G-A
• gnomAD v4: 16-68833488-G-A
• COSMIC: COSM6023987
• MyVariant Identifiers: chr16:g.68867391G>A (hg19) ; chr16:g.68833488G>A (hg38)
• ERepo: CA190198/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833488G>A , CM000678.2:g.68833488G>A	GRCh38
NC_000016.9:g.68867391G>A , CM000678.1:g.68867391G>A	GRCh37
NC_000016.8:g.67424892G>A	NCBI36
NG_008021.1:g.101197G>A , LRG_301:g.101197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2638G>A MANE Select	ENSP00000261769.4:p.Glu880Lys
ENST00000261769.9:c.2638G>A	ENSP00000261769.4:p.Glu880Lys
ENST00000422392.6:c.2455G>A	ENSP00000414946.2:p.Glu819Lys
ENST00000562118.1:n.856G>A
ENST00000562836.5:n.2709G>A
ENST00000566510.5:c.*1304G>A	ENSP00000458139.1:n.*1304G>A
ENST00000566612.5:c.*878G>A	ENSP00000454782.1:n.*878G>A
ENST00000611625.4:c.2701G>A	ENSP00000481063.1:p.Glu901Lys
ENST00000612417.4:c.1854-703G>A	ENSP00000478360.1:n.1854-703G>A
ENST00000621016.4:c.1866-715G>A	ENSP00000480664.1:n.1866-715G>A
NM_004360.3:c.2638G>A , LRG_301t1:c.2638G>A	NP_004351.1:p.Glu880Lys
XM_011523488.1:c.1903G>A	XP_011521790.1:p.Glu635Lys
XM_011523489.1:c.1903G>A	XP_011521791.1:p.Glu635Lys
NM_001317184.1:c.2455G>A	NP_001304113.1:p.Glu819Lys
NM_001317185.1:c.1090G>A	NP_001304114.1:p.Glu364Lys
NM_001317186.1:c.673G>A	NP_001304115.1:p.Glu225Lys
NM_004360.4:c.2638G>A	NP_004351.1:p.Glu880Lys
NM_004360.5:c.2638G>A MANE Select	NP_004351.1:p.Glu880Lys
NM_001317184.2:c.2455G>A	NP_001304113.1:p.Glu819Lys
NM_001317185.2:c.1090G>A	NP_001304114.1:p.Glu364Lys
NM_001317186.2:c.673G>A	NP_001304115.1:p.Glu225Lys