Canonical Allele Identifier: CA186229

Gene: CDH1

Linked Data

• ClinVar Variation Id: 156499
• ClinVar RCV Id: RCV000013036 ; RCV000144593 ; RCV000162417 ; RCV000520174 ; RCV002467442 ; RCV003328240
• dbSNP Id: rs587783050
• gnomAD v4: 16-68812263-G-A
• COSMIC: COSM1479024
• MyVariant Identifiers: chr16:g.68846166G>A (hg19) ; chr16:g.68812263G>A (hg38)
• PubMed: PMID:15831593 ; PMID:17221870 ; PMID:17545690 ; PMID:18427545 ; PMID:19269290 ; PMID:19965908 ; PMID:21681551 ; PMID:27682646 ; PMID:27995193
• ERepo: CA186229/MONDO:0007648/007 ; CA186229/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68812263G>A , CM000678.2:g.68812263G>A	GRCh38
NC_000016.9:g.68846166G>A , CM000678.1:g.68846166G>A	GRCh37
NC_000016.8:g.67403667G>A	NCBI36
NG_008021.1:g.79972G>A , LRG_301:g.79972G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1137G>A MANE Select	ENSP00000261769.4:p.Thr379=
ENST00000261769.9:c.1137G>A	ENSP00000261769.4:p.Thr379=
ENST00000422392.6:c.1137G>A	ENSP00000414946.2:p.Thr379=
ENST00000562836.5:n.1208G>A
ENST00000565810.1:n.181G>A
ENST00000566510.5:c.981G>A	ENSP00000458139.1:p.Thr327=
ENST00000566612.5:c.1137G>A	ENSP00000454782.1:p.Thr379=
ENST00000611625.4:c.1137G>A	ENSP00000481063.1:p.Thr379=
ENST00000612417.4:c.1137G>A	ENSP00000478360.1:p.Thr379=
ENST00000621016.4:c.1137G>A	ENSP00000480664.1:p.Thr379=
NM_004360.3:c.1137G>A , LRG_301t1:c.1137G>A	NP_004351.1:p.Thr379=
XM_011523488.1:c.402G>A	XP_011521790.1:p.Thr134=
XM_011523489.1:c.402G>A	XP_011521791.1:p.Thr134=
NM_001317184.1:c.1137G>A	NP_001304113.1:p.Thr379=
NM_001317185.1:c.-479G>A	NP_001304114.1:n.-479G>A
NM_001317186.1:c.-683G>A	NP_001304115.1:n.-683G>A
NM_004360.4:c.1137G>A	NP_004351.1:p.Thr379=
NM_004360.5:c.1137G>A MANE Select	NP_004351.1:p.Thr379=
NM_001317184.2:c.1137G>A	NP_001304113.1:p.Thr379=
NM_001317185.2:c.-479G>A	NP_001304114.1:n.-479G>A
NM_001317186.2:c.-683G>A	NP_001304115.1:n.-683G>A