Canonical Allele Identifier: CA396472292

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1008404
• ClinVar RCV Id: RCV001305733 ; RCV002430113
• dbSNP Id: rs377489352
• MyVariant Identifiers: chr16:g.68867274G>C (hg19) ; chr16:g.68833371G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833371G>C , CM000678.2:g.68833371G>C	GRCh38
NC_000016.9:g.68867274G>C , CM000678.1:g.68867274G>C	GRCh37
NC_000016.8:g.67424775G>C	NCBI36
NG_008021.1:g.101080G>C , LRG_301:g.101080G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2521G>C MANE Select	ENSP00000261769.4:p.Glu841Gln
ENST00000261769.9:c.2521G>C	ENSP00000261769.4:p.Glu841Gln
ENST00000422392.6:c.2338G>C	ENSP00000414946.2:p.Glu780Gln
ENST00000562118.1:n.739G>C
ENST00000562836.5:n.2592G>C
ENST00000566510.5:c.*1187G>C	ENSP00000458139.1:n.*1187G>C
ENST00000566612.5:c.*761G>C	ENSP00000454782.1:n.*761G>C
ENST00000611625.4:c.2584G>C	ENSP00000481063.1:p.Glu862Gln
ENST00000612417.4:c.1854-820G>C	ENSP00000478360.1:n.1854-820G>C
ENST00000621016.4:c.1866-832G>C	ENSP00000480664.1:n.1866-832G>C
NM_004360.3:c.2521G>C , LRG_301t1:c.2521G>C	NP_004351.1:p.Glu841Gln
XM_011523488.1:c.1786G>C	XP_011521790.1:p.Glu596Gln
XM_011523489.1:c.1786G>C	XP_011521791.1:p.Glu596Gln
NM_001317184.1:c.2338G>C	NP_001304113.1:p.Glu780Gln
NM_001317185.1:c.973G>C	NP_001304114.1:p.Glu325Gln
NM_001317186.1:c.556G>C	NP_001304115.1:p.Glu186Gln
NM_004360.4:c.2521G>C	NP_004351.1:p.Glu841Gln
NM_004360.5:c.2521G>C MANE Select	NP_004351.1:p.Glu841Gln
NM_001317184.2:c.2338G>C	NP_001304113.1:p.Glu780Gln
NM_001317185.2:c.973G>C	NP_001304114.1:p.Glu325Gln
NM_001317186.2:c.556G>C	NP_001304115.1:p.Glu186Gln