Canonical Allele Identifier: CA396467165

Gene: CDH1

Linked Data

• ClinVar Variation Id: 439041
• ClinVar RCV Id: RCV000508276 ; RCV001865648 ; RCV003159639
• dbSNP Id: rs1555516892
• MyVariant Identifiers: chr16:g.68856087A>G (hg19) ; chr16:g.68822184A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822184A>G , CM000678.2:g.68822184A>G	GRCh38
NC_000016.9:g.68856087A>G , CM000678.1:g.68856087A>G	GRCh37
NC_000016.8:g.67413588A>G	NCBI36
NG_008021.1:g.89893A>G , LRG_301:g.89893A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1895A>G MANE Select	ENSP00000261769.4:p.His632Arg
ENST00000261769.9:c.1895A>G	ENSP00000261769.4:p.His632Arg
ENST00000422392.6:c.1712A>G	ENSP00000414946.2:p.His571Arg
ENST00000562836.5:n.1966A>G
ENST00000566510.5:c.*561A>G	ENSP00000458139.1:n.*561A>G
ENST00000566612.5:c.*135A>G	ENSP00000454782.1:n.*135A>G
ENST00000611625.4:c.1958A>G	ENSP00000481063.1:p.His653Arg
ENST00000612417.4:c.1830+65A>G	ENSP00000478360.1:n.1830+65A>G
ENST00000621016.4:c.1865+30A>G	ENSP00000480664.1:n.1865+30A>G
NM_004360.3:c.1895A>G , LRG_301t1:c.1895A>G	NP_004351.1:p.His632Arg
XM_011523488.1:c.1160A>G	XP_011521790.1:p.His387Arg
XM_011523489.1:c.1160A>G	XP_011521791.1:p.His387Arg
NM_001317184.1:c.1712A>G	NP_001304113.1:p.His571Arg
NM_001317185.1:c.347A>G	NP_001304114.1:p.His116Arg
NM_001317186.1:c.-71A>G	NP_001304115.1:n.-71A>G
NM_004360.4:c.1895A>G	NP_004351.1:p.His632Arg
NM_004360.5:c.1895A>G MANE Select	NP_004351.1:p.His632Arg
NM_001317184.2:c.1712A>G	NP_001304113.1:p.His571Arg
NM_001317185.2:c.347A>G	NP_001304114.1:p.His116Arg
NM_001317186.2:c.-71A>G	NP_001304115.1:n.-71A>G