Canonical Allele Identifier: CA166473

Gene: CDH1

Linked Data

• ClinVar Variation Id: 141805
• ClinVar RCV Id: RCV000130460 ; RCV000204783 ; RCV000480312 ; RCV003328214 ; RCV003492601
• dbSNP Id: rs111662525
• gnomAD v2: 16-68844136-G-A
• gnomAD v3: 16-68810233-G-A
• gnomAD v4: 16-68810233-G-A
• MyVariant Identifiers: chr16:g.68844136G>A (hg19) ; chr16:g.68810233G>A (hg38)
• ERepo: CA166473/MONDO:0007648/007 ; CA166473/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68810233G>A , CM000678.2:g.68810233G>A	GRCh38
NC_000016.9:g.68844136G>A , CM000678.1:g.68844136G>A	GRCh37
NC_000016.8:g.67401637G>A	NCBI36
NG_008021.1:g.77942G>A , LRG_301:g.77942G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.724G>A MANE Select	ENSP00000261769.4:p.Val242Ile
ENST00000261769.9:c.724G>A	ENSP00000261769.4:p.Val242Ile
ENST00000422392.6:c.724G>A	ENSP00000414946.2:p.Val242Ile
ENST00000561751.1:c.454+1385G>A
ENST00000562836.5:n.795G>A
ENST00000566510.5:c.568G>A	ENSP00000458139.1:p.Val190Ile
ENST00000566612.5:c.724G>A	ENSP00000454782.1:p.Val242Ile
ENST00000611625.4:c.724G>A	ENSP00000481063.1:p.Val242Ile
ENST00000612417.4:c.724G>A	ENSP00000478360.1:p.Val242Ile
ENST00000621016.4:c.724G>A	ENSP00000480664.1:p.Val242Ile
NM_004360.3:c.724G>A , LRG_301t1:c.724G>A	NP_004351.1:p.Val242Ile
XM_011523488.1:c.-12G>A	XP_011521790.1:n.-12G>A
XM_011523489.1:c.-12G>A	XP_011521791.1:n.-12G>A
NM_001317184.1:c.724G>A	NP_001304113.1:p.Val242Ile
NM_001317185.1:c.-892G>A	NP_001304114.1:n.-892G>A
NM_001317186.1:c.-1096G>A	NP_001304115.1:n.-1096G>A
NM_004360.4:c.724G>A	NP_004351.1:p.Val242Ile
NM_004360.5:c.724G>A MANE Select	NP_004351.1:p.Val242Ile
NM_001317184.2:c.724G>A	NP_001304113.1:p.Val242Ile
NM_001317185.2:c.-892G>A	NP_001304114.1:n.-892G>A
NM_001317186.2:c.-1096G>A	NP_001304115.1:n.-1096G>A