Canonical Allele Identifier: CA396467821

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2700976
• ClinVar RCV Id: RCV003512443
• dbSNP Id: rs2152139534
• MyVariant Identifiers: chr16:g.68857451A>G (hg19) ; chr16:g.68823548A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823548A>G , CM000678.2:g.68823548A>G	GRCh38
NC_000016.9:g.68857451A>G , CM000678.1:g.68857451A>G	GRCh37
NC_000016.8:g.67414952A>G	NCBI36
NG_008021.1:g.91257A>G , LRG_301:g.91257A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2086A>G MANE Select	ENSP00000261769.4:p.Arg696Gly
ENST00000261769.9:c.2086A>G	ENSP00000261769.4:p.Arg696Gly
ENST00000422392.6:c.1903A>G	ENSP00000414946.2:p.Arg635Gly
ENST00000562118.1:n.304A>G
ENST00000562836.5:n.2157A>G
ENST00000566510.5:c.*752A>G	ENSP00000458139.1:n.*752A>G
ENST00000566612.5:c.*326A>G	ENSP00000454782.1:n.*326A>G
ENST00000611625.4:c.2149A>G	ENSP00000481063.1:p.Arg717Gly
ENST00000612417.4:c.1830+1429A>G	ENSP00000478360.1:n.1830+1429A>G
ENST00000621016.4:c.1865+1394A>G	ENSP00000480664.1:n.1865+1394A>G
NM_004360.3:c.2086A>G , LRG_301t1:c.2086A>G	NP_004351.1:p.Arg696Gly
XM_011523488.1:c.1351A>G	XP_011521790.1:p.Arg451Gly
XM_011523489.1:c.1351A>G	XP_011521791.1:p.Arg451Gly
NM_001317184.1:c.1903A>G	NP_001304113.1:p.Arg635Gly
NM_001317185.1:c.538A>G	NP_001304114.1:p.Arg180Gly
NM_001317186.1:c.121A>G	NP_001304115.1:p.Arg41Gly
NM_004360.4:c.2086A>G	NP_004351.1:p.Arg696Gly
NM_004360.5:c.2086A>G MANE Select	NP_004351.1:p.Arg696Gly
NM_001317184.2:c.1903A>G	NP_001304113.1:p.Arg635Gly
NM_001317185.2:c.538A>G	NP_001304114.1:p.Arg180Gly
NM_001317186.2:c.121A>G	NP_001304115.1:p.Arg41Gly