Canonical Allele Identifier: CA396471264

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1371763
• ClinVar RCV Id: RCV001879148
• dbSNP Id: rs200894246
• MyVariant Identifiers: chr16:g.68863674G>C (hg19) ; chr16:g.68829771G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829771G>C , CM000678.2:g.68829771G>C	GRCh38
NC_000016.9:g.68863674G>C , CM000678.1:g.68863674G>C	GRCh37
NC_000016.8:g.67421175G>C	NCBI36
NG_008021.1:g.97480G>C , LRG_301:g.97480G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2413G>C MANE Select	ENSP00000261769.4:p.Asp805His
ENST00000261769.9:c.2413G>C	ENSP00000261769.4:p.Asp805His
ENST00000422392.6:c.2230G>C	ENSP00000414946.2:p.Asp744His
ENST00000562118.1:n.631G>C
ENST00000562836.5:n.2484G>C
ENST00000566510.5:c.*1079G>C	ENSP00000458139.1:n.*1079G>C
ENST00000566612.5:c.*653G>C	ENSP00000454782.1:n.*653G>C
ENST00000611625.4:c.2476G>C	ENSP00000481063.1:p.Asp826His
ENST00000612417.4:c.1853+3217G>C	ENSP00000478360.1:n.1853+3217G>C
ENST00000621016.4:c.1866-4432G>C	ENSP00000480664.1:n.1866-4432G>C
NM_004360.3:c.2413G>C , LRG_301t1:c.2413G>C	NP_004351.1:p.Asp805His
XM_011523488.1:c.1678G>C	XP_011521790.1:p.Asp560His
XM_011523489.1:c.1678G>C	XP_011521791.1:p.Asp560His
NM_001317184.1:c.2230G>C	NP_001304113.1:p.Asp744His
NM_001317185.1:c.865G>C	NP_001304114.1:p.Asp289His
NM_001317186.1:c.448G>C	NP_001304115.1:p.Asp150His
NM_004360.4:c.2413G>C	NP_004351.1:p.Asp805His
NM_004360.5:c.2413G>C MANE Select	NP_004351.1:p.Asp805His
NM_001317184.2:c.2230G>C	NP_001304113.1:p.Asp744His
NM_001317185.2:c.865G>C	NP_001304114.1:p.Asp289His
NM_001317186.2:c.448G>C	NP_001304115.1:p.Asp150His