Canonical Allele Identifier: CA396457338

Gene: CDH1

Linked Data

• ClinVar Variation Id: 479517
• ClinVar RCV Id: RCV000572185 ; RCV000690751
• dbSNP Id: rs1555514454
• gnomAD v4: 16-68801805-T-C
• MyVariant Identifiers: chr16:g.68835708T>C (hg19) ; chr16:g.68801805T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801805T>C , CM000678.2:g.68801805T>C	GRCh38
NC_000016.9:g.68835708T>C , CM000678.1:g.68835708T>C	GRCh37
NC_000016.8:g.67393209T>C	NCBI36
NG_008021.1:g.69514T>C , LRG_301:g.69514T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.299T>C MANE Select	ENSP00000261769.4:p.Val100Ala
ENST00000261769.9:c.299T>C	ENSP00000261769.4:p.Val100Ala
ENST00000422392.6:c.299T>C	ENSP00000414946.2:p.Val100Ala
ENST00000561751.1:c.66T>C
ENST00000562836.5:n.370T>C
ENST00000564676.5:n.581T>C
ENST00000564745.1:n.294T>C
ENST00000566510.5:c.299T>C	ENSP00000458139.1:p.Val100Ala
ENST00000566612.5:c.299T>C	ENSP00000454782.1:p.Val100Ala
ENST00000611625.4:c.299T>C	ENSP00000481063.1:p.Val100Ala
ENST00000612417.4:c.299T>C	ENSP00000478360.1:p.Val100Ala
ENST00000621016.4:c.299T>C	ENSP00000480664.1:p.Val100Ala
NM_004360.3:c.299T>C , LRG_301t1:c.299T>C	NP_004351.1:p.Val100Ala
XM_011523488.1:c.-437T>C	XP_011521790.1:n.-437T>C
XM_011523489.1:c.-437T>C	XP_011521791.1:n.-437T>C
NM_001317184.1:c.299T>C	NP_001304113.1:p.Val100Ala
NM_001317185.1:c.-1317T>C	NP_001304114.1:n.-1317T>C
NM_001317186.1:c.-1521T>C	NP_001304115.1:n.-1521T>C
NM_004360.4:c.299T>C	NP_004351.1:p.Val100Ala
NM_004360.5:c.299T>C MANE Select	NP_004351.1:p.Val100Ala
NM_001317184.2:c.299T>C	NP_001304113.1:p.Val100Ala
NM_001317185.2:c.-1317T>C	NP_001304114.1:n.-1317T>C
NM_001317186.2:c.-1521T>C	NP_001304115.1:n.-1521T>C