Canonical Allele Identifier: CA396462775

Gene: CDH1

Linked Data

• ClinVar Variation Id: 819001
• ClinVar RCV Id: RCV001011163 ; RCV002551738
• dbSNP Id: rs114861467
• MyVariant Identifiers: chr16:g.68849456C>A (hg19) ; chr16:g.68815553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815553C>A , CM000678.2:g.68815553C>A	GRCh38
NC_000016.9:g.68849456C>A , CM000678.1:g.68849456C>A	GRCh37
NC_000016.8:g.67406957C>A	NCBI36
NG_008021.1:g.83262C>A , LRG_301:g.83262C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1359C>A MANE Select	ENSP00000261769.4:p.His453Gln
ENST00000261769.9:c.1359C>A	ENSP00000261769.4:p.His453Gln
ENST00000422392.6:c.1176C>A	ENSP00000414946.2:p.His392Gln
ENST00000562836.5:n.1430C>A
ENST00000566510.5:c.*25C>A	ENSP00000458139.1:n.*25C>A
ENST00000566612.5:c.1359C>A	ENSP00000454782.1:p.His453Gln
ENST00000611625.4:c.1422C>A	ENSP00000481063.1:p.His474Gln
ENST00000612417.4:c.1359C>A	ENSP00000478360.1:p.His453Gln
ENST00000621016.4:c.1359C>A	ENSP00000480664.1:p.His453Gln
NM_004360.3:c.1359C>A , LRG_301t1:c.1359C>A	NP_004351.1:p.His453Gln
XM_011523488.1:c.624C>A	XP_011521790.1:p.His208Gln
XM_011523489.1:c.624C>A	XP_011521791.1:p.His208Gln
NM_001317184.1:c.1176C>A	NP_001304113.1:p.His392Gln
NM_001317185.1:c.-190C>A	NP_001304114.1:n.-190C>A
NM_001317186.1:c.-461C>A	NP_001304115.1:n.-461C>A
NM_004360.4:c.1359C>A	NP_004351.1:p.His453Gln
NM_004360.5:c.1359C>A MANE Select	NP_004351.1:p.His453Gln
NM_001317184.2:c.1176C>A	NP_001304113.1:p.His392Gln
NM_001317185.2:c.-190C>A	NP_001304114.1:n.-190C>A
NM_001317186.2:c.-461C>A	NP_001304115.1:n.-461C>A