Canonical Allele Identifier: CA396467657

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1484320
• ClinVar RCV Id: RCV002005705
• dbSNP Id: rs2152139379
• gnomAD v4: 16-68823472-G-A
• MyVariant Identifiers: chr16:g.68857375G>A (hg19) ; chr16:g.68823472G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823472G>A , CM000678.2:g.68823472G>A	GRCh38
NC_000016.9:g.68857375G>A , CM000678.1:g.68857375G>A	GRCh37
NC_000016.8:g.67414876G>A	NCBI36
NG_008021.1:g.91181G>A , LRG_301:g.91181G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2010G>A MANE Select	ENSP00000261769.4:p.Met670Ile
ENST00000261769.9:c.2010G>A	ENSP00000261769.4:p.Met670Ile
ENST00000422392.6:c.1827G>A	ENSP00000414946.2:p.Met609Ile
ENST00000562118.1:n.228G>A
ENST00000562836.5:n.2081G>A
ENST00000566510.5:c.*676G>A	ENSP00000458139.1:n.*676G>A
ENST00000566612.5:c.*250G>A	ENSP00000454782.1:n.*250G>A
ENST00000611625.4:c.2073G>A	ENSP00000481063.1:p.Met691Ile
ENST00000612417.4:c.1830+1353G>A	ENSP00000478360.1:n.1830+1353G>A
ENST00000621016.4:c.1865+1318G>A	ENSP00000480664.1:n.1865+1318G>A
NM_004360.3:c.2010G>A , LRG_301t1:c.2010G>A	NP_004351.1:p.Met670Ile
XM_011523488.1:c.1275G>A	XP_011521790.1:p.Met425Ile
XM_011523489.1:c.1275G>A	XP_011521791.1:p.Met425Ile
NM_001317184.1:c.1827G>A	NP_001304113.1:p.Met609Ile
NM_001317185.1:c.462G>A	NP_001304114.1:p.Met154Ile
NM_001317186.1:c.45G>A	NP_001304115.1:p.Met15Ile
NM_004360.4:c.2010G>A	NP_004351.1:p.Met670Ile
NM_004360.5:c.2010G>A MANE Select	NP_004351.1:p.Met670Ile
NM_001317184.2:c.1827G>A	NP_001304113.1:p.Met609Ile
NM_001317185.2:c.462G>A	NP_001304114.1:p.Met154Ile
NM_001317186.2:c.45G>A	NP_001304115.1:p.Met15Ile