Canonical Allele Identifier: CA396469803

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2089715
• ClinVar RCV Id: RCV003020547
• dbSNP Id: rs776975632
• MyVariant Identifiers: chr16:g.68862157C>G (hg19) ; chr16:g.68828254C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68828254C>G , CM000678.2:g.68828254C>G	GRCh38
NC_000016.9:g.68862157C>G , CM000678.1:g.68862157C>G	GRCh37
NC_000016.8:g.67419658C>G	NCBI36
NG_008021.1:g.95963C>G , LRG_301:g.95963C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2245C>G MANE Select	ENSP00000261769.4:p.Arg749Gly
ENST00000261769.9:c.2245C>G	ENSP00000261769.4:p.Arg749Gly
ENST00000422392.6:c.2062C>G	ENSP00000414946.2:p.Arg688Gly
ENST00000562118.1:n.463C>G
ENST00000562836.5:n.2316C>G
ENST00000566510.5:c.*911C>G	ENSP00000458139.1:n.*911C>G
ENST00000566612.5:c.*485C>G	ENSP00000454782.1:n.*485C>G
ENST00000611625.4:c.2308C>G	ENSP00000481063.1:p.Arg770Gly
ENST00000612417.4:c.1853+1700C>G	ENSP00000478360.1:n.1853+1700C>G
ENST00000621016.4:c.1866-5949C>G	ENSP00000480664.1:n.1866-5949C>G
NM_004360.3:c.2245C>G , LRG_301t1:c.2245C>G	NP_004351.1:p.Arg749Gly
XM_011523488.1:c.1510C>G	XP_011521790.1:p.Arg504Gly
XM_011523489.1:c.1510C>G	XP_011521791.1:p.Arg504Gly
NM_001317184.1:c.2062C>G	NP_001304113.1:p.Arg688Gly
NM_001317185.1:c.697C>G	NP_001304114.1:p.Arg233Gly
NM_001317186.1:c.280C>G	NP_001304115.1:p.Arg94Gly
NM_004360.4:c.2245C>G	NP_004351.1:p.Arg749Gly
NM_004360.5:c.2245C>G MANE Select	NP_004351.1:p.Arg749Gly
NM_001317184.2:c.2062C>G	NP_001304113.1:p.Arg688Gly
NM_001317185.2:c.697C>G	NP_001304114.1:p.Arg233Gly
NM_001317186.2:c.280C>G	NP_001304115.1:p.Arg94Gly