Canonical Allele Identifier: CA396465189

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1019476
• ClinVar RCV Id: RCV001318913
• dbSNP Id: rs747801796
• MyVariant Identifiers: chr16:g.68853260T>G (hg19) ; chr16:g.68819357T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819357T>G , CM000678.2:g.68819357T>G	GRCh38
NC_000016.9:g.68853260T>G , CM000678.1:g.68853260T>G	GRCh37
NC_000016.8:g.67410761T>G	NCBI36
NG_008021.1:g.87066T>G , LRG_301:g.87066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1643T>G MANE Select	ENSP00000261769.4:p.Leu548Arg
ENST00000261769.9:c.1643T>G	ENSP00000261769.4:p.Leu548Arg
ENST00000422392.6:c.1460T>G	ENSP00000414946.2:p.Leu487Arg
ENST00000562836.5:n.1714T>G
ENST00000566510.5:c.*309T>G	ENSP00000458139.1:n.*309T>G
ENST00000566612.5:c.1566-2644T>G	ENSP00000454782.1:n.1566-2644T>G
ENST00000611625.4:c.1706T>G	ENSP00000481063.1:p.Leu569Arg
ENST00000612417.4:c.1643T>G	ENSP00000478360.1:p.Leu548Arg
ENST00000621016.4:c.1643T>G	ENSP00000480664.1:p.Leu548Arg
NM_004360.3:c.1643T>G , LRG_301t1:c.1643T>G	NP_004351.1:p.Leu548Arg
XM_011523488.1:c.908T>G	XP_011521790.1:p.Leu303Arg
XM_011523489.1:c.908T>G	XP_011521791.1:p.Leu303Arg
NM_001317184.1:c.1460T>G	NP_001304113.1:p.Leu487Arg
NM_001317185.1:c.95T>G	NP_001304114.1:p.Leu32Arg
NM_001317186.1:c.-254-2644T>G	NP_001304115.1:n.-254-2644T>G
NM_004360.4:c.1643T>G	NP_004351.1:p.Leu548Arg
NM_004360.5:c.1643T>G MANE Select	NP_004351.1:p.Leu548Arg
NM_001317184.2:c.1460T>G	NP_001304113.1:p.Leu487Arg
NM_001317185.2:c.95T>G	NP_001304114.1:p.Leu32Arg
NM_001317186.2:c.-254-2644T>G	NP_001304115.1:n.-254-2644T>G