Canonical Allele Identifier: CA396459001

Gene: CDH1

Linked Data

• ClinVar Variation Id: 948545
• ClinVar RCV Id: RCV001219823 ; RCV003163693
• dbSNP Id: rs1960786758
• gnomAD v4: 16-68810336-T-C
• MyVariant Identifiers: chr16:g.68844239T>C (hg19) ; chr16:g.68810336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68810336T>C , CM000678.2:g.68810336T>C	GRCh38
NC_000016.9:g.68844239T>C , CM000678.1:g.68844239T>C	GRCh37
NC_000016.8:g.67401740T>C	NCBI36
NG_008021.1:g.78045T>C , LRG_301:g.78045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.827T>C MANE Select	ENSP00000261769.4:p.Leu276Pro
ENST00000261769.9:c.827T>C	ENSP00000261769.4:p.Leu276Pro
ENST00000422392.6:c.827T>C	ENSP00000414946.2:p.Leu276Pro
ENST00000561751.1:c.455-1348T>C
ENST00000562836.5:n.898T>C
ENST00000566510.5:c.671T>C	ENSP00000458139.1:p.Leu224Pro
ENST00000566612.5:c.827T>C	ENSP00000454782.1:p.Leu276Pro
ENST00000611625.4:c.827T>C	ENSP00000481063.1:p.Leu276Pro
ENST00000612417.4:c.827T>C	ENSP00000478360.1:p.Leu276Pro
ENST00000621016.4:c.827T>C	ENSP00000480664.1:p.Leu276Pro
NM_004360.3:c.827T>C , LRG_301t1:c.827T>C	NP_004351.1:p.Leu276Pro
XM_011523488.1:c.92T>C	XP_011521790.1:p.Leu31Pro
XM_011523489.1:c.92T>C	XP_011521791.1:p.Leu31Pro
NM_001317184.1:c.827T>C	NP_001304113.1:p.Leu276Pro
NM_001317185.1:c.-789T>C	NP_001304114.1:n.-789T>C
NM_001317186.1:c.-993T>C	NP_001304115.1:n.-993T>C
NM_004360.4:c.827T>C	NP_004351.1:p.Leu276Pro
NM_004360.5:c.827T>C MANE Select	NP_004351.1:p.Leu276Pro
NM_001317184.2:c.827T>C	NP_001304113.1:p.Leu276Pro
NM_001317185.2:c.-789T>C	NP_001304114.1:n.-789T>C
NM_001317186.2:c.-993T>C	NP_001304115.1:n.-993T>C