Canonical Allele Identifier: CA496392341

Gene: CDH1

Linked Data

• ClinVar Variation Id: 797259
• ClinVar RCV Id: RCV000980710 ; RCV001180730
• dbSNP Id: rs1596963337
• gnomAD v4: 16-68822008-A-G
• MyVariant Identifiers: chr16:g.68855911A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822008A>G , CM000678.2:g.68822008A>G	GRCh38
NC_000016.9:g.68855911A>G , CM000678.1:g.68855911A>G	GRCh37
NC_000016.8:g.67413412A>G	NCBI36
NG_008021.1:g.89717A>G , LRG_301:g.89717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1719A>G MANE Select	ENSP00000261769.4:p.Pro573=
ENST00000261769.9:c.1719A>G	ENSP00000261769.4:p.Pro573=
ENST00000422392.6:c.1536A>G	ENSP00000414946.2:p.Pro512=
ENST00000562836.5:n.1790A>G
ENST00000566510.5:c.*385A>G	ENSP00000458139.1:n.*385A>G
ENST00000566612.5:c.1573A>G	ENSP00000454782.1:p.Ser525Gly
ENST00000611625.4:c.1782A>G	ENSP00000481063.1:p.Pro594=
ENST00000612417.4:c.1719A>G	ENSP00000478360.1:p.Pro573=
ENST00000621016.4:c.1719A>G	ENSP00000480664.1:p.Pro573=
NM_004360.3:c.1719A>G , LRG_301t1:c.1719A>G	NP_004351.1:p.Pro573=
XM_011523488.1:c.984A>G	XP_011521790.1:p.Pro328=
XM_011523489.1:c.984A>G	XP_011521791.1:p.Pro328=
NM_001317184.1:c.1536A>G	NP_001304113.1:p.Pro512=
NM_001317185.1:c.171A>G	NP_001304114.1:p.Pro57=
NM_001317186.1:c.-247A>G	NP_001304115.1:n.-247A>G
NM_004360.4:c.1719A>G	NP_004351.1:p.Pro573=
NM_004360.5:c.1719A>G MANE Select	NP_004351.1:p.Pro573=
NM_001317184.2:c.1536A>G	NP_001304113.1:p.Pro512=
NM_001317185.2:c.171A>G	NP_001304114.1:p.Pro57=
NM_001317186.2:c.-247A>G	NP_001304115.1:n.-247A>G