Canonical Allele Identifier: CA396463247

Gene: CDH1

Linked Data

• dbSNP Id: rs1555516163
• COSMIC: COSM3957751
• MyVariant Identifiers: chr16:g.68849593T>G (hg19) ; chr16:g.68815690T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815690T>G , CM000678.2:g.68815690T>G	GRCh38
NC_000016.9:g.68849593T>G , CM000678.1:g.68849593T>G	GRCh37
NC_000016.8:g.67407094T>G	NCBI36
NG_008021.1:g.83399T>G , LRG_301:g.83399T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1496T>G MANE Select	ENSP00000261769.4:p.Phe499Cys
ENST00000261769.9:c.1496T>G	ENSP00000261769.4:p.Phe499Cys
ENST00000422392.6:c.1313T>G	ENSP00000414946.2:p.Phe438Cys
ENST00000562836.5:n.1567T>G
ENST00000566510.5:c.*162T>G	ENSP00000458139.1:n.*162T>G
ENST00000566612.5:c.1496T>G	ENSP00000454782.1:p.Phe499Cys
ENST00000611625.4:c.1559T>G	ENSP00000481063.1:p.Phe520Cys
ENST00000612417.4:c.1496T>G	ENSP00000478360.1:p.Phe499Cys
ENST00000621016.4:c.1496T>G	ENSP00000480664.1:p.Phe499Cys
NM_004360.3:c.1496T>G , LRG_301t1:c.1496T>G	NP_004351.1:p.Phe499Cys
XM_011523488.1:c.761T>G	XP_011521790.1:p.Phe254Cys
XM_011523489.1:c.761T>G	XP_011521791.1:p.Phe254Cys
NM_001317184.1:c.1313T>G	NP_001304113.1:p.Phe438Cys
NM_001317185.1:c.-53T>G	NP_001304114.1:n.-53T>G
NM_001317186.1:c.-324T>G	NP_001304115.1:n.-324T>G
NM_004360.4:c.1496T>G	NP_004351.1:p.Phe499Cys
NM_004360.5:c.1496T>G MANE Select	NP_004351.1:p.Phe499Cys
NM_001317184.2:c.1313T>G	NP_001304113.1:p.Phe438Cys
NM_001317185.2:c.-53T>G	NP_001304114.1:n.-53T>G
NM_001317186.2:c.-324T>G	NP_001304115.1:n.-324T>G