Canonical Allele Identifier: CA396472364

Gene: CDH1

Linked Data

• dbSNP Id: rs1567517746
• gnomAD v4: 16-68833392-C-A
• MyVariant Identifiers: chr16:g.68867295C>A (hg19) ; chr16:g.68833392C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833392C>A , CM000678.2:g.68833392C>A	GRCh38
NC_000016.9:g.68867295C>A , CM000678.1:g.68867295C>A	GRCh37
NC_000016.8:g.67424796C>A	NCBI36
NG_008021.1:g.101101C>A , LRG_301:g.101101C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2542C>A MANE Select	ENSP00000261769.4:p.Leu848Met
ENST00000261769.9:c.2542C>A	ENSP00000261769.4:p.Leu848Met
ENST00000422392.6:c.2359C>A	ENSP00000414946.2:p.Leu787Met
ENST00000562118.1:n.760C>A
ENST00000562836.5:n.2613C>A
ENST00000566510.5:c.*1208C>A	ENSP00000458139.1:n.*1208C>A
ENST00000566612.5:c.*782C>A	ENSP00000454782.1:n.*782C>A
ENST00000611625.4:c.2605C>A	ENSP00000481063.1:p.Leu869Met
ENST00000612417.4:c.1854-799C>A	ENSP00000478360.1:n.1854-799C>A
ENST00000621016.4:c.1866-811C>A	ENSP00000480664.1:n.1866-811C>A
NM_004360.3:c.2542C>A , LRG_301t1:c.2542C>A	NP_004351.1:p.Leu848Met
XM_011523488.1:c.1807C>A	XP_011521790.1:p.Leu603Met
XM_011523489.1:c.1807C>A	XP_011521791.1:p.Leu603Met
NM_001317184.1:c.2359C>A	NP_001304113.1:p.Leu787Met
NM_001317185.1:c.994C>A	NP_001304114.1:p.Leu332Met
NM_001317186.1:c.577C>A	NP_001304115.1:p.Leu193Met
NM_004360.4:c.2542C>A	NP_004351.1:p.Leu848Met
NM_004360.5:c.2542C>A MANE Select	NP_004351.1:p.Leu848Met
NM_001317184.2:c.2359C>A	NP_001304113.1:p.Leu787Met
NM_001317185.2:c.994C>A	NP_001304114.1:p.Leu332Met
NM_001317186.2:c.577C>A	NP_001304115.1:p.Leu193Met