Canonical Allele Identifier: CA193050

Gene: CDH1

Linked Data

• ClinVar Variation Id: 185821
• ClinVar RCV Id: RCV003236785
• dbSNP Id: rs786202482
• gnomAD v2: 16-68849581-T-C
• gnomAD v3: 16-68815678-T-C
• gnomAD v4: 16-68815678-T-C
• MyVariant Identifiers: chr16:g.68849581T>C (hg19) ; chr16:g.68815678T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815678T>C , CM000678.2:g.68815678T>C	GRCh38
NC_000016.9:g.68849581T>C , CM000678.1:g.68849581T>C	GRCh37
NC_000016.8:g.67407082T>C	NCBI36
NG_008021.1:g.83387T>C , LRG_301:g.83387T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1484T>C MANE Select	ENSP00000261769.4:p.Val495Ala
ENST00000261769.9:c.1484T>C	ENSP00000261769.4:p.Val495Ala
ENST00000422392.6:c.1301T>C	ENSP00000414946.2:p.Val434Ala
ENST00000562836.5:n.1555T>C
ENST00000566510.5:c.*150T>C	ENSP00000458139.1:n.*150T>C
ENST00000566612.5:c.1484T>C	ENSP00000454782.1:p.Val495Ala
ENST00000611625.4:c.1547T>C	ENSP00000481063.1:p.Val516Ala
ENST00000612417.4:c.1484T>C	ENSP00000478360.1:p.Val495Ala
ENST00000621016.4:c.1484T>C	ENSP00000480664.1:p.Val495Ala
NM_004360.3:c.1484T>C , LRG_301t1:c.1484T>C	NP_004351.1:p.Val495Ala
XM_011523488.1:c.749T>C	XP_011521790.1:p.Val250Ala
XM_011523489.1:c.749T>C	XP_011521791.1:p.Val250Ala
NM_001317184.1:c.1301T>C	NP_001304113.1:p.Val434Ala
NM_001317185.1:c.-65T>C	NP_001304114.1:n.-65T>C
NM_001317186.1:c.-336T>C	NP_001304115.1:n.-336T>C
NM_004360.4:c.1484T>C	NP_004351.1:p.Val495Ala
NM_004360.5:c.1484T>C MANE Select	NP_004351.1:p.Val495Ala
NM_001317184.2:c.1301T>C	NP_001304113.1:p.Val434Ala
NM_001317185.2:c.-65T>C	NP_001304114.1:n.-65T>C
NM_001317186.2:c.-336T>C	NP_001304115.1:n.-336T>C