Canonical Allele Identifier: CA186443

Gene: CDH1

Linked Data

• ClinVar Variation Id: 183778
• ClinVar RCV Id: RCV000162547 ; RCV000203891 ; RCV001358569 ; RCV000431225
• dbSNP Id: rs114708971
• ExAC: 16:68867396 C / T
• gnomAD v2: 16-68867396-C-T
• gnomAD v3: 16-68833493-C-T
• gnomAD v4: 16-68833493-C-T
• MyVariant Identifiers: chr16:g.68867396C>T (hg19) ; chr16:g.68833493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833493C>T , CM000678.2:g.68833493C>T	GRCh38
NC_000016.9:g.68867396C>T , CM000678.1:g.68867396C>T	GRCh37
NC_000016.8:g.67424897C>T	NCBI36
NG_008021.1:g.101202C>T , LRG_301:g.101202C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2643C>T MANE Select	ENSP00000261769.4:p.Asp881=
ENST00000261769.9:c.2643C>T	ENSP00000261769.4:p.Asp881=
ENST00000422392.6:c.2460C>T	ENSP00000414946.2:p.Asp820=
ENST00000562118.1:n.861C>T
ENST00000562836.5:n.2714C>T
ENST00000566510.5:c.*1309C>T	ENSP00000458139.1:n.*1309C>T
ENST00000566612.5:c.*883C>T	ENSP00000454782.1:n.*883C>T
ENST00000611625.4:c.2706C>T	ENSP00000481063.1:p.Asp902=
ENST00000612417.4:c.1854-698C>T	ENSP00000478360.1:n.1854-698C>T
ENST00000621016.4:c.1866-710C>T	ENSP00000480664.1:n.1866-710C>T
NM_004360.3:c.2643C>T , LRG_301t1:c.2643C>T	NP_004351.1:p.Asp881=
XM_011523488.1:c.1908C>T	XP_011521790.1:p.Asp636=
XM_011523489.1:c.1908C>T	XP_011521791.1:p.Asp636=
NM_001317184.1:c.2460C>T	NP_001304113.1:p.Asp820=
NM_001317185.1:c.1095C>T	NP_001304114.1:p.Asp365=
NM_001317186.1:c.678C>T	NP_001304115.1:p.Asp226=
NM_004360.4:c.2643C>T	NP_004351.1:p.Asp881=
NM_004360.5:c.2643C>T MANE Select	NP_004351.1:p.Asp881=
NM_001317184.2:c.2460C>T	NP_001304113.1:p.Asp820=
NM_001317185.2:c.1095C>T	NP_001304114.1:p.Asp365=
NM_001317186.2:c.678C>T	NP_001304115.1:p.Asp226=