Canonical Allele Identifier: CA396467497

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1782980
• ClinVar RCV Id: RCV002411013
• dbSNP Id: rs1331707958
• gnomAD v2: 16-68857302-C-A
• gnomAD v4: 16-68823399-C-A
• MyVariant Identifiers: chr16:g.68857302C>A (hg19) ; chr16:g.68823399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823399C>A , CM000678.2:g.68823399C>A	GRCh38
NC_000016.9:g.68857302C>A , CM000678.1:g.68857302C>A	GRCh37
NC_000016.8:g.67414803C>A	NCBI36
NG_008021.1:g.91108C>A , LRG_301:g.91108C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1937C>A MANE Select	ENSP00000261769.4:p.Thr646Asn
ENST00000261769.9:c.1937C>A	ENSP00000261769.4:p.Thr646Asn
ENST00000422392.6:c.1754C>A	ENSP00000414946.2:p.Thr585Asn
ENST00000562118.1:n.155C>A
ENST00000562836.5:n.2008C>A
ENST00000566510.5:c.*603C>A	ENSP00000458139.1:n.*603C>A
ENST00000566612.5:c.*177C>A	ENSP00000454782.1:n.*177C>A
ENST00000611625.4:c.2000C>A	ENSP00000481063.1:p.Thr667Asn
ENST00000612417.4:c.1830+1280C>A	ENSP00000478360.1:n.1830+1280C>A
ENST00000621016.4:c.1865+1245C>A	ENSP00000480664.1:n.1865+1245C>A
NM_004360.3:c.1937C>A , LRG_301t1:c.1937C>A	NP_004351.1:p.Thr646Asn
XM_011523488.1:c.1202C>A	XP_011521790.1:p.Thr401Asn
XM_011523489.1:c.1202C>A	XP_011521791.1:p.Thr401Asn
NM_001317184.1:c.1754C>A	NP_001304113.1:p.Thr585Asn
NM_001317185.1:c.389C>A	NP_001304114.1:p.Thr130Asn
NM_001317186.1:c.-29C>A	NP_001304115.1:n.-29C>A
NM_004360.4:c.1937C>A	NP_004351.1:p.Thr646Asn
NM_004360.5:c.1937C>A MANE Select	NP_004351.1:p.Thr646Asn
NM_001317184.2:c.1754C>A	NP_001304113.1:p.Thr585Asn
NM_001317185.2:c.389C>A	NP_001304114.1:p.Thr130Asn
NM_001317186.2:c.-29C>A	NP_001304115.1:n.-29C>A