Canonical Allele Identifier: CA396467521

Gene: CDH1

Linked Data

• ClinVar Variation Id: 463738
• ClinVar RCV Id: RCV000535633
• dbSNP Id: rs1555517077
• gnomAD v4: 16-68823410-A-G
• MyVariant Identifiers: chr16:g.68857313A>G (hg19) ; chr16:g.68823410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823410A>G , CM000678.2:g.68823410A>G	GRCh38
NC_000016.9:g.68857313A>G , CM000678.1:g.68857313A>G	GRCh37
NC_000016.8:g.67414814A>G	NCBI36
NG_008021.1:g.91119A>G , LRG_301:g.91119A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1948A>G MANE Select	ENSP00000261769.4:p.Ile650Val
ENST00000261769.9:c.1948A>G	ENSP00000261769.4:p.Ile650Val
ENST00000422392.6:c.1765A>G	ENSP00000414946.2:p.Ile589Val
ENST00000562118.1:n.166A>G
ENST00000562836.5:n.2019A>G
ENST00000566510.5:c.*614A>G	ENSP00000458139.1:n.*614A>G
ENST00000566612.5:c.*188A>G	ENSP00000454782.1:n.*188A>G
ENST00000611625.4:c.2011A>G	ENSP00000481063.1:p.Ile671Val
ENST00000612417.4:c.1830+1291A>G	ENSP00000478360.1:n.1830+1291A>G
ENST00000621016.4:c.1865+1256A>G	ENSP00000480664.1:n.1865+1256A>G
NM_004360.3:c.1948A>G , LRG_301t1:c.1948A>G	NP_004351.1:p.Ile650Val
XM_011523488.1:c.1213A>G	XP_011521790.1:p.Ile405Val
XM_011523489.1:c.1213A>G	XP_011521791.1:p.Ile405Val
NM_001317184.1:c.1765A>G	NP_001304113.1:p.Ile589Val
NM_001317185.1:c.400A>G	NP_001304114.1:p.Ile134Val
NM_001317186.1:c.-18A>G	NP_001304115.1:n.-18A>G
NM_004360.4:c.1948A>G	NP_004351.1:p.Ile650Val
NM_004360.5:c.1948A>G MANE Select	NP_004351.1:p.Ile650Val
NM_001317184.2:c.1765A>G	NP_001304113.1:p.Ile589Val
NM_001317185.2:c.400A>G	NP_001304114.1:p.Ile134Val
NM_001317186.2:c.-18A>G	NP_001304115.1:n.-18A>G