Canonical Allele Identifier: CA396471259

Gene: CDH1

Linked Data

• ClinVar Variation Id: 821237
• ClinVar RCV Id: RCV001015449 ; RCV001036415
• dbSNP Id: rs1596972823
• MyVariant Identifiers: chr16:g.68863672C>A (hg19) ; chr16:g.68829769C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829769C>A , CM000678.2:g.68829769C>A	GRCh38
NC_000016.9:g.68863672C>A , CM000678.1:g.68863672C>A	GRCh37
NC_000016.8:g.67421173C>A	NCBI36
NG_008021.1:g.97478C>A , LRG_301:g.97478C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2411C>A MANE Select	ENSP00000261769.4:p.Pro804His
ENST00000261769.9:c.2411C>A	ENSP00000261769.4:p.Pro804His
ENST00000422392.6:c.2228C>A	ENSP00000414946.2:p.Pro743His
ENST00000562118.1:n.629C>A
ENST00000562836.5:n.2482C>A
ENST00000566510.5:c.*1077C>A	ENSP00000458139.1:n.*1077C>A
ENST00000566612.5:c.*651C>A	ENSP00000454782.1:n.*651C>A
ENST00000611625.4:c.2474C>A	ENSP00000481063.1:p.Pro825His
ENST00000612417.4:c.1853+3215C>A	ENSP00000478360.1:n.1853+3215C>A
ENST00000621016.4:c.1866-4434C>A	ENSP00000480664.1:n.1866-4434C>A
NM_004360.3:c.2411C>A , LRG_301t1:c.2411C>A	NP_004351.1:p.Pro804His
XM_011523488.1:c.1676C>A	XP_011521790.1:p.Pro559His
XM_011523489.1:c.1676C>A	XP_011521791.1:p.Pro559His
NM_001317184.1:c.2228C>A	NP_001304113.1:p.Pro743His
NM_001317185.1:c.863C>A	NP_001304114.1:p.Pro288His
NM_001317186.1:c.446C>A	NP_001304115.1:p.Pro149His
NM_004360.4:c.2411C>A	NP_004351.1:p.Pro804His
NM_004360.5:c.2411C>A MANE Select	NP_004351.1:p.Pro804His
NM_001317184.2:c.2228C>A	NP_001304113.1:p.Pro743His
NM_001317185.2:c.863C>A	NP_001304114.1:p.Pro288His
NM_001317186.2:c.446C>A	NP_001304115.1:p.Pro149His