Canonical Allele Identifier: CA8129814

Gene: CDH1

Linked Data

• ClinVar Variation Id: 406646
• ClinVar RCV Id: RCV000464249 ; RCV002446797 ; RCV003477948 ; RCV003328347
• dbSNP Id: rs767019668
• ExAC: 16:68835634 C / G
• gnomAD v2: 16-68835634-C-G
• gnomAD v3: 16-68801731-C-G
• gnomAD v4: 16-68801731-C-G
• MyVariant Identifiers: chr16:g.68835634C>G (hg19) ; chr16:g.68801731C>G (hg38)
• ERepo: CA8129814/MONDO:0007648/007 ; CA8129814/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68801731C>G , CM000678.2:g.68801731C>G	GRCh38
NC_000016.9:g.68835634C>G , CM000678.1:g.68835634C>G	GRCh37
NC_000016.8:g.67393135C>G	NCBI36
NG_008021.1:g.69440C>G , LRG_301:g.69440C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.225C>G MANE Select	ENSP00000261769.4:p.Phe75Leu
ENST00000261769.9:c.225C>G	ENSP00000261769.4:p.Phe75Leu
ENST00000422392.6:c.225C>G	ENSP00000414946.2:p.Phe75Leu
ENST00000562836.5:n.296C>G
ENST00000564676.5:n.507C>G
ENST00000564745.1:n.220C>G
ENST00000566510.5:c.225C>G	ENSP00000458139.1:p.Phe75Leu
ENST00000566612.5:c.225C>G	ENSP00000454782.1:p.Phe75Leu
ENST00000611625.4:c.225C>G	ENSP00000481063.1:p.Phe75Leu
ENST00000612417.4:c.225C>G	ENSP00000478360.1:p.Phe75Leu
ENST00000621016.4:c.225C>G	ENSP00000480664.1:p.Phe75Leu
NM_004360.3:c.225C>G , LRG_301t1:c.225C>G	NP_004351.1:p.Phe75Leu
XM_011523488.1:c.-511C>G	XP_011521790.1:n.-511C>G
XM_011523489.1:c.-511C>G	XP_011521791.1:n.-511C>G
NM_001317184.1:c.225C>G	NP_001304113.1:p.Phe75Leu
NM_001317185.1:c.-1391C>G	NP_001304114.1:n.-1391C>G
NM_001317186.1:c.-1595C>G	NP_001304115.1:n.-1595C>G
NM_004360.4:c.225C>G	NP_004351.1:p.Phe75Leu
NM_004360.5:c.225C>G MANE Select	NP_004351.1:p.Phe75Leu
NM_001317184.2:c.225C>G	NP_001304113.1:p.Phe75Leu
NM_001317185.2:c.-1391C>G	NP_001304114.1:n.-1391C>G
NM_001317186.2:c.-1595C>G	NP_001304115.1:n.-1595C>G