Canonical Allele Identifier: CA197774

Gene: CDH1

Linked Data

• ClinVar Variation Id: 187491
• ClinVar RCV Id: RCV000167225
• dbSNP Id: rs786203774
• MyVariant Identifiers: chr16:g.68867277G>C (hg19) ; chr16:g.68833374G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833374G>C , CM000678.2:g.68833374G>C	GRCh38
NC_000016.9:g.68867277G>C , CM000678.1:g.68867277G>C	GRCh37
NC_000016.8:g.67424778G>C	NCBI36
NG_008021.1:g.101083G>C , LRG_301:g.101083G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2524G>C MANE Select	ENSP00000261769.4:p.Ala842Pro
ENST00000261769.9:c.2524G>C	ENSP00000261769.4:p.Ala842Pro
ENST00000422392.6:c.2341G>C	ENSP00000414946.2:p.Ala781Pro
ENST00000562118.1:n.742G>C
ENST00000562836.5:n.2595G>C
ENST00000566510.5:c.*1190G>C	ENSP00000458139.1:n.*1190G>C
ENST00000566612.5:c.*764G>C	ENSP00000454782.1:n.*764G>C
ENST00000611625.4:c.2587G>C	ENSP00000481063.1:p.Ala863Pro
ENST00000612417.4:c.1854-817G>C	ENSP00000478360.1:n.1854-817G>C
ENST00000621016.4:c.1866-829G>C	ENSP00000480664.1:n.1866-829G>C
NM_004360.3:c.2524G>C , LRG_301t1:c.2524G>C	NP_004351.1:p.Ala842Pro
XM_011523488.1:c.1789G>C	XP_011521790.1:p.Ala597Pro
XM_011523489.1:c.1789G>C	XP_011521791.1:p.Ala597Pro
NM_001317184.1:c.2341G>C	NP_001304113.1:p.Ala781Pro
NM_001317185.1:c.976G>C	NP_001304114.1:p.Ala326Pro
NM_001317186.1:c.559G>C	NP_001304115.1:p.Ala187Pro
NM_004360.4:c.2524G>C	NP_004351.1:p.Ala842Pro
NM_004360.5:c.2524G>C MANE Select	NP_004351.1:p.Ala842Pro
NM_001317184.2:c.2341G>C	NP_001304113.1:p.Ala781Pro
NM_001317185.2:c.976G>C	NP_001304114.1:p.Ala326Pro
NM_001317186.2:c.559G>C	NP_001304115.1:p.Ala187Pro