Canonical Allele Identifier: CA396472260

Gene: CDH1

Linked Data

• ClinVar Variation Id: 857052
• ClinVar RCV Id: RCV001062653 ; RCV002429698
• dbSNP Id: rs770974998
• gnomAD v4: 16-68833364-C-G
• MyVariant Identifiers: chr16:g.68867267C>G (hg19) ; chr16:g.68833364C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833364C>G , CM000678.2:g.68833364C>G	GRCh38
NC_000016.9:g.68867267C>G , CM000678.1:g.68867267C>G	GRCh37
NC_000016.8:g.67424768C>G	NCBI36
NG_008021.1:g.101073C>G , LRG_301:g.101073C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2514C>G MANE Select	ENSP00000261769.4:p.Ser838Arg
ENST00000261769.9:c.2514C>G	ENSP00000261769.4:p.Ser838Arg
ENST00000422392.6:c.2331C>G	ENSP00000414946.2:p.Ser777Arg
ENST00000562118.1:n.732C>G
ENST00000562836.5:n.2585C>G
ENST00000566510.5:c.*1180C>G	ENSP00000458139.1:n.*1180C>G
ENST00000566612.5:c.*754C>G	ENSP00000454782.1:n.*754C>G
ENST00000611625.4:c.2577C>G	ENSP00000481063.1:p.Ser859Arg
ENST00000612417.4:c.1854-827C>G	ENSP00000478360.1:n.1854-827C>G
ENST00000621016.4:c.1866-839C>G	ENSP00000480664.1:n.1866-839C>G
NM_004360.3:c.2514C>G , LRG_301t1:c.2514C>G	NP_004351.1:p.Ser838Arg
XM_011523488.1:c.1779C>G	XP_011521790.1:p.Ser593Arg
XM_011523489.1:c.1779C>G	XP_011521791.1:p.Ser593Arg
NM_001317184.1:c.2331C>G	NP_001304113.1:p.Ser777Arg
NM_001317185.1:c.966C>G	NP_001304114.1:p.Ser322Arg
NM_001317186.1:c.549C>G	NP_001304115.1:p.Ser183Arg
NM_004360.4:c.2514C>G	NP_004351.1:p.Ser838Arg
NM_004360.5:c.2514C>G MANE Select	NP_004351.1:p.Ser838Arg
NM_001317184.2:c.2331C>G	NP_001304113.1:p.Ser777Arg
NM_001317185.2:c.966C>G	NP_001304114.1:p.Ser322Arg
NM_001317186.2:c.549C>G	NP_001304115.1:p.Ser183Arg