Canonical Allele Identifier: CA8130317

Gene: CDH1

Linked Data

• ClinVar Variation Id: 423788
• ClinVar RCV Id: RCV000480709 ; RCV000567842 ; RCV000639205 ; RCV003464035
• dbSNP Id: rs555842031
• ExAC: 16:68867382 G / A
• gnomAD v2: 16-68867382-G-A
• gnomAD v3: 16-68833479-G-A
• gnomAD v4: 16-68833479-G-A
• MyVariant Identifiers: chr16:g.68867382G>A (hg19) ; chr16:g.68833479G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833479G>A , CM000678.2:g.68833479G>A	GRCh38
NC_000016.9:g.68867382G>A , CM000678.1:g.68867382G>A	GRCh37
NC_000016.8:g.67424883G>A	NCBI36
NG_008021.1:g.101188G>A , LRG_301:g.101188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2629G>A MANE Select	ENSP00000261769.4:p.Gly877Arg
ENST00000261769.9:c.2629G>A	ENSP00000261769.4:p.Gly877Arg
ENST00000422392.6:c.2446G>A	ENSP00000414946.2:p.Gly816Arg
ENST00000562118.1:n.847G>A
ENST00000562836.5:n.2700G>A
ENST00000566510.5:c.*1295G>A	ENSP00000458139.1:n.*1295G>A
ENST00000566612.5:c.*869G>A	ENSP00000454782.1:n.*869G>A
ENST00000611625.4:c.2692G>A	ENSP00000481063.1:p.Gly898Arg
ENST00000612417.4:c.1854-712G>A	ENSP00000478360.1:n.1854-712G>A
ENST00000621016.4:c.1866-724G>A	ENSP00000480664.1:n.1866-724G>A
NM_004360.3:c.2629G>A , LRG_301t1:c.2629G>A	NP_004351.1:p.Gly877Arg
XM_011523488.1:c.1894G>A	XP_011521790.1:p.Gly632Arg
XM_011523489.1:c.1894G>A	XP_011521791.1:p.Gly632Arg
NM_001317184.1:c.2446G>A	NP_001304113.1:p.Gly816Arg
NM_001317185.1:c.1081G>A	NP_001304114.1:p.Gly361Arg
NM_001317186.1:c.664G>A	NP_001304115.1:p.Gly222Arg
NM_004360.4:c.2629G>A	NP_004351.1:p.Gly877Arg
NM_004360.5:c.2629G>A MANE Select	NP_004351.1:p.Gly877Arg
NM_001317184.2:c.2446G>A	NP_001304113.1:p.Gly816Arg
NM_001317185.2:c.1081G>A	NP_001304114.1:p.Gly361Arg
NM_001317186.2:c.664G>A	NP_001304115.1:p.Gly222Arg