Canonical Allele Identifier: CA2573152574

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1587108
• ClinVar RCV Id: RCV002100912
• dbSNP Id: rs587782380
• gnomAD v4: 16-68737470-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68737470C>G , CM000678.2:g.68737470C>G	GRCh38
NC_000016.9:g.68771373C>G , CM000678.1:g.68771373C>G	GRCh37
NC_000016.8:g.67328874C>G	NCBI36
NG_008021.1:g.5179C>G , LRG_301:g.5179C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.48+7C>G MANE Select	ENSP00000261769.4:n.48+7C>G
ENST00000261769.9:c.48+7C>G	ENSP00000261769.4:n.48+7C>G
ENST00000422392.6:c.48+7C>G	ENSP00000414946.2:n.48+7C>G
ENST00000566510.5:c.48+7C>G	ENSP00000458139.1:n.48+7C>G
ENST00000566612.5:c.48+7C>G	ENSP00000454782.1:n.48+7C>G
ENST00000611625.4:c.48+7C>G	ENSP00000481063.1:n.48+7C>G
ENST00000612417.4:c.48+7C>G	ENSP00000478360.1:n.48+7C>G
ENST00000621016.4:c.48+7C>G	ENSP00000480664.1:n.48+7C>G
NM_004360.3:c.48+7C>G , LRG_301t1:c.48+7C>G	NP_004351.1:n.48+7C>G
NM_001317184.1:c.48+7C>G	NP_001304113.1:n.48+7C>G
NM_001317185.1:c.-1568+7C>G	NP_001304114.1:n.-1568+7C>G
NM_001317186.1:c.-1772+7C>G	NP_001304115.1:n.-1772+7C>G
NM_004360.4:c.48+7C>G	NP_004351.1:n.48+7C>G
NM_004360.5:c.48+7C>G MANE Select	NP_004351.1:n.48+7C>G
NM_001317184.2:c.48+7C>G	NP_001304113.1:n.48+7C>G
NM_001317185.2:c.-1568+7C>G	NP_001304114.1:n.-1568+7C>G
NM_001317186.2:c.-1772+7C>G	NP_001304115.1:n.-1772+7C>G