Canonical Allele Identifier: CA8130082

Gene: CDH1

Linked Data

• dbSNP Id: rs778871891
• ExAC: 16:68849577 G / C
• gnomAD v2: 16-68849577-G-C
• gnomAD v4: 16-68815674-G-C
• MyVariant Identifiers: chr16:g.68849577G>C (hg19) ; chr16:g.68815674G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815674G>C , CM000678.2:g.68815674G>C	GRCh38
NC_000016.9:g.68849577G>C , CM000678.1:g.68849577G>C	GRCh37
NC_000016.8:g.67407078G>C	NCBI36
NG_008021.1:g.83383G>C , LRG_301:g.83383G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1480G>C MANE Select	ENSP00000261769.4:p.Glu494Gln
ENST00000261769.9:c.1480G>C	ENSP00000261769.4:p.Glu494Gln
ENST00000422392.6:c.1297G>C	ENSP00000414946.2:p.Glu433Gln
ENST00000562836.5:n.1551G>C
ENST00000566510.5:c.*146G>C	ENSP00000458139.1:n.*146G>C
ENST00000566612.5:c.1480G>C	ENSP00000454782.1:p.Glu494Gln
ENST00000611625.4:c.1543G>C	ENSP00000481063.1:p.Glu515Gln
ENST00000612417.4:c.1480G>C	ENSP00000478360.1:p.Glu494Gln
ENST00000621016.4:c.1480G>C	ENSP00000480664.1:p.Glu494Gln
NM_004360.3:c.1480G>C , LRG_301t1:c.1480G>C	NP_004351.1:p.Glu494Gln
XM_011523488.1:c.745G>C	XP_011521790.1:p.Glu249Gln
XM_011523489.1:c.745G>C	XP_011521791.1:p.Glu249Gln
NM_001317184.1:c.1297G>C	NP_001304113.1:p.Glu433Gln
NM_001317185.1:c.-69G>C	NP_001304114.1:n.-69G>C
NM_001317186.1:c.-340G>C	NP_001304115.1:n.-340G>C
NM_004360.4:c.1480G>C	NP_004351.1:p.Glu494Gln
NM_004360.5:c.1480G>C MANE Select	NP_004351.1:p.Glu494Gln
NM_001317184.2:c.1297G>C	NP_001304113.1:p.Glu433Gln
NM_001317185.2:c.-69G>C	NP_001304114.1:n.-69G>C
NM_001317186.2:c.-340G>C	NP_001304115.1:n.-340G>C