Canonical Allele Identifier: CA294297

Gene: CDH1

Linked Data

• ClinVar Variation Id: 136064
• ClinVar RCV Id: RCV000123243 ; RCV000235149 ; RCV000656818 ; RCV000131154 ; RCV003328194
• dbSNP Id: rs35606263
• ExAC: 16:68835623 G / A
• gnomAD v2: 16-68835623-G-A
• gnomAD v3: 16-68801720-G-A
• gnomAD v4: 16-68801720-G-A
• MyVariant Identifiers: chr16:g.68835623G>A (hg19) ; chr16:g.68801720G>A (hg38)
• PubMed: PMID:26206375
• ERepo: CA294297/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801720G>A , CM000678.2:g.68801720G>A	GRCh38
NC_000016.9:g.68835623G>A , CM000678.1:g.68835623G>A	GRCh37
NC_000016.8:g.67393124G>A	NCBI36
NG_008021.1:g.69429G>A , LRG_301:g.69429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.214G>A MANE Select	ENSP00000261769.4:p.Asp72Asn
ENST00000261769.9:c.214G>A	ENSP00000261769.4:p.Asp72Asn
ENST00000422392.6:c.214G>A	ENSP00000414946.2:p.Asp72Asn
ENST00000562836.5:n.285G>A
ENST00000564676.5:n.496G>A
ENST00000564745.1:n.209G>A
ENST00000566510.5:c.214G>A	ENSP00000458139.1:p.Asp72Asn
ENST00000566612.5:c.214G>A	ENSP00000454782.1:p.Asp72Asn
ENST00000611625.4:c.214G>A	ENSP00000481063.1:p.Asp72Asn
ENST00000612417.4:c.214G>A	ENSP00000478360.1:p.Asp72Asn
ENST00000621016.4:c.214G>A	ENSP00000480664.1:p.Asp72Asn
NM_004360.3:c.214G>A , LRG_301t1:c.214G>A	NP_004351.1:p.Asp72Asn
XM_011523488.1:c.-522G>A	XP_011521790.1:n.-522G>A
XM_011523489.1:c.-522G>A	XP_011521791.1:n.-522G>A
NM_001317184.1:c.214G>A	NP_001304113.1:p.Asp72Asn
NM_001317185.1:c.-1402G>A	NP_001304114.1:n.-1402G>A
NM_001317186.1:c.-1606G>A	NP_001304115.1:n.-1606G>A
NM_004360.4:c.214G>A	NP_004351.1:p.Asp72Asn
NM_004360.5:c.214G>A MANE Select	NP_004351.1:p.Asp72Asn
NM_001317184.2:c.214G>A	NP_001304113.1:p.Asp72Asn
NM_001317185.2:c.-1402G>A	NP_001304114.1:n.-1402G>A
NM_001317186.2:c.-1606G>A	NP_001304115.1:n.-1606G>A