Canonical Allele Identifier: CA336064

Gene: CDH1

Linked Data

• ClinVar Variation Id: 216590
• ClinVar RCV Id: RCV000195967 ; RCV000221967
• dbSNP Id: rs863224727
• gnomAD v4: 16-68819347-C-G
• MyVariant Identifiers: chr16:g.68853250C>G (hg19) ; chr16:g.68819347C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819347C>G , CM000678.2:g.68819347C>G	GRCh38
NC_000016.9:g.68853250C>G , CM000678.1:g.68853250C>G	GRCh37
NC_000016.8:g.67410751C>G	NCBI36
NG_008021.1:g.87056C>G , LRG_301:g.87056C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1633C>G MANE Select	ENSP00000261769.4:p.Arg545Gly
ENST00000261769.9:c.1633C>G	ENSP00000261769.4:p.Arg545Gly
ENST00000422392.6:c.1450C>G	ENSP00000414946.2:p.Arg484Gly
ENST00000562836.5:n.1704C>G
ENST00000566510.5:c.*299C>G	ENSP00000458139.1:n.*299C>G
ENST00000566612.5:c.1566-2654C>G	ENSP00000454782.1:n.1566-2654C>G
ENST00000611625.4:c.1696C>G	ENSP00000481063.1:p.Arg566Gly
ENST00000612417.4:c.1633C>G	ENSP00000478360.1:p.Arg545Gly
ENST00000621016.4:c.1633C>G	ENSP00000480664.1:p.Arg545Gly
NM_004360.3:c.1633C>G , LRG_301t1:c.1633C>G	NP_004351.1:p.Arg545Gly
XM_011523488.1:c.898C>G	XP_011521790.1:p.Arg300Gly
XM_011523489.1:c.898C>G	XP_011521791.1:p.Arg300Gly
NM_001317184.1:c.1450C>G	NP_001304113.1:p.Arg484Gly
NM_001317185.1:c.85C>G	NP_001304114.1:p.Arg29Gly
NM_001317186.1:c.-254-2654C>G	NP_001304115.1:n.-254-2654C>G
NM_004360.4:c.1633C>G	NP_004351.1:p.Arg545Gly
NM_004360.5:c.1633C>G MANE Select	NP_004351.1:p.Arg545Gly
NM_001317184.2:c.1450C>G	NP_001304113.1:p.Arg484Gly
NM_001317185.2:c.85C>G	NP_001304114.1:p.Arg29Gly
NM_001317186.2:c.-254-2654C>G	NP_001304115.1:n.-254-2654C>G