Canonical Allele Identifier: CA396465408

Gene: CDH1

Linked Data

• ClinVar Variation Id: 575212
• ClinVar RCV Id: RCV000697371
• dbSNP Id: rs775941240
• MyVariant Identifiers: chr16:g.68853313A>G (hg19) ; chr16:g.68819410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819410A>G , CM000678.2:g.68819410A>G	GRCh38
NC_000016.9:g.68853313A>G , CM000678.1:g.68853313A>G	GRCh37
NC_000016.8:g.67410814A>G	NCBI36
NG_008021.1:g.87119A>G , LRG_301:g.87119A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1696A>G MANE Select	ENSP00000261769.4:p.Ile566Val
ENST00000261769.9:c.1696A>G	ENSP00000261769.4:p.Ile566Val
ENST00000422392.6:c.1513A>G	ENSP00000414946.2:p.Ile505Val
ENST00000562836.5:n.1767A>G
ENST00000566510.5:c.*362A>G	ENSP00000458139.1:n.*362A>G
ENST00000566612.5:c.1566-2591A>G	ENSP00000454782.1:n.1566-2591A>G
ENST00000611625.4:c.1759A>G	ENSP00000481063.1:p.Ile587Val
ENST00000612417.4:c.1696A>G	ENSP00000478360.1:p.Ile566Val
ENST00000621016.4:c.1696A>G	ENSP00000480664.1:p.Ile566Val
NM_004360.3:c.1696A>G , LRG_301t1:c.1696A>G	NP_004351.1:p.Ile566Val
XM_011523488.1:c.961A>G	XP_011521790.1:p.Ile321Val
XM_011523489.1:c.961A>G	XP_011521791.1:p.Ile321Val
NM_001317184.1:c.1513A>G	NP_001304113.1:p.Ile505Val
NM_001317185.1:c.148A>G	NP_001304114.1:p.Ile50Val
NM_001317186.1:c.-254-2591A>G	NP_001304115.1:n.-254-2591A>G
NM_004360.4:c.1696A>G	NP_004351.1:p.Ile566Val
NM_004360.5:c.1696A>G MANE Select	NP_004351.1:p.Ile566Val
NM_001317184.2:c.1513A>G	NP_001304113.1:p.Ile505Val
NM_001317185.2:c.148A>G	NP_001304114.1:p.Ile50Val
NM_001317186.2:c.-254-2591A>G	NP_001304115.1:n.-254-2591A>G