Canonical Allele Identifier: CA169060

Gene: CDH1

Linked Data

• ClinVar Variation Id: 142660
• ClinVar RCV Id: RCV000132006 ; RCV000482832 ; RCV000766437 ; RCV001070946 ; RCV003462025
• dbSNP Id: rs587782623
• ExAC: 16:68867353 A / G
• gnomAD v2: 16-68867353-A-G
• gnomAD v4: 16-68833450-A-G
• COSMIC: COSM1479038
• MyVariant Identifiers: chr16:g.68867353A>G (hg19) ; chr16:g.68833450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833450A>G , CM000678.2:g.68833450A>G	GRCh38
NC_000016.9:g.68867353A>G , CM000678.1:g.68867353A>G	GRCh37
NC_000016.8:g.67424854A>G	NCBI36
NG_008021.1:g.101159A>G , LRG_301:g.101159A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2600A>G MANE Select	ENSP00000261769.4:p.Asn867Ser
ENST00000261769.9:c.2600A>G	ENSP00000261769.4:p.Asn867Ser
ENST00000422392.6:c.2417A>G	ENSP00000414946.2:p.Asn806Ser
ENST00000562118.1:n.818A>G
ENST00000562836.5:n.2671A>G
ENST00000566510.5:c.*1266A>G	ENSP00000458139.1:n.*1266A>G
ENST00000566612.5:c.*840A>G	ENSP00000454782.1:n.*840A>G
ENST00000611625.4:c.2663A>G	ENSP00000481063.1:p.Asn888Ser
ENST00000612417.4:c.1854-741A>G	ENSP00000478360.1:n.1854-741A>G
ENST00000621016.4:c.1866-753A>G	ENSP00000480664.1:n.1866-753A>G
NM_004360.3:c.2600A>G , LRG_301t1:c.2600A>G	NP_004351.1:p.Asn867Ser
XM_011523488.1:c.1865A>G	XP_011521790.1:p.Asn622Ser
XM_011523489.1:c.1865A>G	XP_011521791.1:p.Asn622Ser
NM_001317184.1:c.2417A>G	NP_001304113.1:p.Asn806Ser
NM_001317185.1:c.1052A>G	NP_001304114.1:p.Asn351Ser
NM_001317186.1:c.635A>G	NP_001304115.1:p.Asn212Ser
NM_004360.4:c.2600A>G	NP_004351.1:p.Asn867Ser
NM_004360.5:c.2600A>G MANE Select	NP_004351.1:p.Asn867Ser
NM_001317184.2:c.2417A>G	NP_001304113.1:p.Asn806Ser
NM_001317185.2:c.1052A>G	NP_001304114.1:p.Asn351Ser
NM_001317186.2:c.635A>G	NP_001304115.1:p.Asn212Ser