Canonical Allele Identifier: CA1139664752

Gene: CDH1

Linked Data

• ClinVar Variation Id: 928403
• ClinVar RCV Id: RCV001192264
• dbSNP Id: rs1960735285

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808685G>C , CM000678.2:g.68808685G>C	GRCh38
NC_000016.9:g.68842588G>C , CM000678.1:g.68842588G>C	GRCh37
NC_000016.8:g.67400089G>C	NCBI36
NG_008021.1:g.76394G>C , LRG_301:g.76394G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.532-8G>C MANE Select	ENSP00000261769.4:n.532-8G>C
ENST00000261769.9:c.532-8G>C	ENSP00000261769.4:n.532-8G>C
ENST00000422392.6:c.532-8G>C	ENSP00000414946.2:n.532-8G>C
ENST00000561751.1:c.299-8G>C
ENST00000562836.5:n.603-8G>C
ENST00000564676.5:n.814-8G>C
ENST00000564745.1:n.527-8G>C
ENST00000566510.5:c.531+118G>C	ENSP00000458139.1:n.531+118G>C
ENST00000566612.5:c.532-8G>C	ENSP00000454782.1:n.532-8G>C
ENST00000567320.1:n.42-8G>C
ENST00000611625.4:c.532-8G>C	ENSP00000481063.1:n.532-8G>C
ENST00000612417.4:c.532-8G>C	ENSP00000478360.1:n.532-8G>C
ENST00000621016.4:c.532-8G>C	ENSP00000480664.1:n.532-8G>C
NM_004360.3:c.532-8G>C , LRG_301t1:c.532-8G>C	NP_004351.1:n.532-8G>C
XM_011523488.1:c.-204-8G>C	XP_011521790.1:n.-204-8G>C
XM_011523489.1:c.-204-8G>C	XP_011521791.1:n.-204-8G>C
NM_001317184.1:c.532-8G>C	NP_001304113.1:n.532-8G>C
NM_001317185.1:c.-1084-8G>C	NP_001304114.1:n.-1084-8G>C
NM_001317186.1:c.-1288-8G>C	NP_001304115.1:n.-1288-8G>C
NM_004360.4:c.532-8G>C	NP_004351.1:n.532-8G>C
NM_004360.5:c.532-8G>C MANE Select	NP_004351.1:n.532-8G>C
NM_001317184.2:c.532-8G>C	NP_001304113.1:n.532-8G>C
NM_001317185.2:c.-1084-8G>C	NP_001304114.1:n.-1084-8G>C
NM_001317186.2:c.-1288-8G>C	NP_001304115.1:n.-1288-8G>C