Canonical Allele Identifier: CA298995

Gene: CDH1

Linked Data

• ClinVar Variation Id: 182399
• ClinVar RCV Id: RCV000160393 ; RCV000212373 ; RCV000234355 ; RCV001356277
• dbSNP Id: rs730881667
• ExAC: 16:68853227 C / T
• gnomAD v2: 16-68853227-C-T
• gnomAD v4: 16-68819324-C-T
• MyVariant Identifiers: chr16:g.68853227C>T (hg19) ; chr16:g.68819324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819324C>T , CM000678.2:g.68819324C>T	GRCh38
NC_000016.9:g.68853227C>T , CM000678.1:g.68853227C>T	GRCh37
NC_000016.8:g.67410728C>T	NCBI36
NG_008021.1:g.87033C>T , LRG_301:g.87033C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1610C>T MANE Select	ENSP00000261769.4:p.Pro537Leu
ENST00000261769.9:c.1610C>T	ENSP00000261769.4:p.Pro537Leu
ENST00000422392.6:c.1427C>T	ENSP00000414946.2:p.Pro476Leu
ENST00000562836.5:n.1681C>T
ENST00000566510.5:c.*276C>T	ENSP00000458139.1:n.*276C>T
ENST00000566612.5:c.1566-2677C>T	ENSP00000454782.1:n.1566-2677C>T
ENST00000611625.4:c.1673C>T	ENSP00000481063.1:p.Pro558Leu
ENST00000612417.4:c.1610C>T	ENSP00000478360.1:p.Pro537Leu
ENST00000621016.4:c.1610C>T	ENSP00000480664.1:p.Pro537Leu
NM_004360.3:c.1610C>T , LRG_301t1:c.1610C>T	NP_004351.1:p.Pro537Leu
XM_011523488.1:c.875C>T	XP_011521790.1:p.Pro292Leu
XM_011523489.1:c.875C>T	XP_011521791.1:p.Pro292Leu
NM_001317184.1:c.1427C>T	NP_001304113.1:p.Pro476Leu
NM_001317185.1:c.62C>T	NP_001304114.1:p.Pro21Leu
NM_001317186.1:c.-254-2677C>T	NP_001304115.1:n.-254-2677C>T
NM_004360.4:c.1610C>T	NP_004351.1:p.Pro537Leu
NM_004360.5:c.1610C>T MANE Select	NP_004351.1:p.Pro537Leu
NM_001317184.2:c.1427C>T	NP_001304113.1:p.Pro476Leu
NM_001317185.2:c.62C>T	NP_001304114.1:p.Pro21Leu
NM_001317186.2:c.-254-2677C>T	NP_001304115.1:n.-254-2677C>T