Canonical Allele Identifier: CA10580128

Gene: CDH1

Linked Data

• ClinVar Variation Id: 232054
• ClinVar RCV Id: RCV000219712 ; RCV000508188 ; RCV000527221
• dbSNP Id: rs876659525
• gnomAD v3: 16-68819359-G-A
• gnomAD v4: 16-68819359-G-A
• MyVariant Identifiers: chr16:g.68853262G>A (hg19) ; chr16:g.68819359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819359G>A , CM000678.2:g.68819359G>A	GRCh38
NC_000016.9:g.68853262G>A , CM000678.1:g.68853262G>A	GRCh37
NC_000016.8:g.67410763G>A	NCBI36
NG_008021.1:g.87068G>A , LRG_301:g.87068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1645G>A MANE Select	ENSP00000261769.4:p.Asp549Asn
ENST00000261769.9:c.1645G>A	ENSP00000261769.4:p.Asp549Asn
ENST00000422392.6:c.1462G>A	ENSP00000414946.2:p.Asp488Asn
ENST00000562836.5:n.1716G>A
ENST00000566510.5:c.*311G>A	ENSP00000458139.1:n.*311G>A
ENST00000566612.5:c.1566-2642G>A	ENSP00000454782.1:n.1566-2642G>A
ENST00000611625.4:c.1708G>A	ENSP00000481063.1:p.Asp570Asn
ENST00000612417.4:c.1645G>A	ENSP00000478360.1:p.Asp549Asn
ENST00000621016.4:c.1645G>A	ENSP00000480664.1:p.Asp549Asn
NM_004360.3:c.1645G>A , LRG_301t1:c.1645G>A	NP_004351.1:p.Asp549Asn
XM_011523488.1:c.910G>A	XP_011521790.1:p.Asp304Asn
XM_011523489.1:c.910G>A	XP_011521791.1:p.Asp304Asn
NM_001317184.1:c.1462G>A	NP_001304113.1:p.Asp488Asn
NM_001317185.1:c.97G>A	NP_001304114.1:p.Asp33Asn
NM_001317186.1:c.-254-2642G>A	NP_001304115.1:n.-254-2642G>A
NM_004360.4:c.1645G>A	NP_004351.1:p.Asp549Asn
NM_004360.5:c.1645G>A MANE Select	NP_004351.1:p.Asp549Asn
NM_001317184.2:c.1462G>A	NP_001304113.1:p.Asp488Asn
NM_001317185.2:c.97G>A	NP_001304114.1:p.Asp33Asn
NM_001317186.2:c.-254-2642G>A	NP_001304115.1:n.-254-2642G>A