Canonical Allele Identifier: CA8130073

Gene: CDH1

Linked Data

• ClinVar Variation Id: 384963
• ClinVar RCV Id: RCV000420536 ; RCV000465629 ; RCV000562814 ; RCV003316551
• dbSNP Id: rs370368644
• ExAC: 16:68849468 G / A
• gnomAD v2: 16-68849468-G-A
• gnomAD v3: 16-68815565-G-A
• gnomAD v4: 16-68815565-G-A
• MyVariant Identifiers: chr16:g.68849468G>A (hg19) ; chr16:g.68815565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815565G>A , CM000678.2:g.68815565G>A	GRCh38
NC_000016.9:g.68849468G>A , CM000678.1:g.68849468G>A	GRCh37
NC_000016.8:g.67406969G>A	NCBI36
NG_008021.1:g.83274G>A , LRG_301:g.83274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1371G>A MANE Select	ENSP00000261769.4:p.Thr457=
ENST00000261769.9:c.1371G>A	ENSP00000261769.4:p.Thr457=
ENST00000422392.6:c.1188G>A	ENSP00000414946.2:p.Thr396=
ENST00000562836.5:n.1442G>A
ENST00000566510.5:c.*37G>A	ENSP00000458139.1:n.*37G>A
ENST00000566612.5:c.1371G>A	ENSP00000454782.1:p.Thr457=
ENST00000611625.4:c.1434G>A	ENSP00000481063.1:p.Thr478=
ENST00000612417.4:c.1371G>A	ENSP00000478360.1:p.Thr457=
ENST00000621016.4:c.1371G>A	ENSP00000480664.1:p.Thr457=
NM_004360.3:c.1371G>A , LRG_301t1:c.1371G>A	NP_004351.1:p.Thr457=
XM_011523488.1:c.636G>A	XP_011521790.1:p.Thr212=
XM_011523489.1:c.636G>A	XP_011521791.1:p.Thr212=
NM_001317184.1:c.1188G>A	NP_001304113.1:p.Thr396=
NM_001317185.1:c.-178G>A	NP_001304114.1:n.-178G>A
NM_001317186.1:c.-449G>A	NP_001304115.1:n.-449G>A
NM_004360.4:c.1371G>A	NP_004351.1:p.Thr457=
NM_004360.5:c.1371G>A MANE Select	NP_004351.1:p.Thr457=
NM_001317184.2:c.1188G>A	NP_001304113.1:p.Thr396=
NM_001317185.2:c.-178G>A	NP_001304114.1:n.-178G>A
NM_001317186.2:c.-449G>A	NP_001304115.1:n.-449G>A