Canonical Allele Identifier: CA188919

Gene: CDH1

Linked Data

• ClinVar Variation Id: 184421
• ClinVar RCV Id: RCV000163676 ; RCV000467069
• dbSNP Id: rs786201452
• gnomAD v2: 16-68856085-A-C
• gnomAD v3: 16-68822182-A-C
• gnomAD v4: 16-68822182-A-C
• MyVariant Identifiers: chr16:g.68856085A>C (hg19) ; chr16:g.68822182A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822182A>C , CM000678.2:g.68822182A>C	GRCh38
NC_000016.9:g.68856085A>C , CM000678.1:g.68856085A>C	GRCh37
NC_000016.8:g.67413586A>C	NCBI36
NG_008021.1:g.89891A>C , LRG_301:g.89891A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1893A>C MANE Select	ENSP00000261769.4:p.Thr631=
ENST00000261769.9:c.1893A>C	ENSP00000261769.4:p.Thr631=
ENST00000422392.6:c.1710A>C	ENSP00000414946.2:p.Thr570=
ENST00000562836.5:n.1964A>C
ENST00000566510.5:c.*559A>C	ENSP00000458139.1:n.*559A>C
ENST00000566612.5:c.*133A>C	ENSP00000454782.1:n.*133A>C
ENST00000611625.4:c.1956A>C	ENSP00000481063.1:p.Thr652=
ENST00000612417.4:c.1830+63A>C	ENSP00000478360.1:n.1830+63A>C
ENST00000621016.4:c.1865+28A>C	ENSP00000480664.1:n.1865+28A>C
NM_004360.3:c.1893A>C , LRG_301t1:c.1893A>C	NP_004351.1:p.Thr631=
XM_011523488.1:c.1158A>C	XP_011521790.1:p.Thr386=
XM_011523489.1:c.1158A>C	XP_011521791.1:p.Thr386=
NM_001317184.1:c.1710A>C	NP_001304113.1:p.Thr570=
NM_001317185.1:c.345A>C	NP_001304114.1:p.Thr115=
NM_001317186.1:c.-73A>C	NP_001304115.1:n.-73A>C
NM_004360.4:c.1893A>C	NP_004351.1:p.Thr631=
NM_004360.5:c.1893A>C MANE Select	NP_004351.1:p.Thr631=
NM_001317184.2:c.1710A>C	NP_001304113.1:p.Thr570=
NM_001317185.2:c.345A>C	NP_001304114.1:p.Thr115=
NM_001317186.2:c.-73A>C	NP_001304115.1:n.-73A>C