Canonical Allele Identifier: CA194456

Gene: CDH1

Linked Data

• ClinVar Variation Id: 186317
• ClinVar RCV Id: RCV000165892 ; RCV000478403 ; RCV000550538 ; RCV000780091
• dbSNP Id: rs747235838
• ExAC: 16:68857314 T / C
• gnomAD v2: 16-68857314-T-C
• gnomAD v4: 16-68823411-T-C
• MyVariant Identifiers: chr16:g.68857314T>C (hg19) ; chr16:g.68823411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823411T>C , CM000678.2:g.68823411T>C	GRCh38
NC_000016.9:g.68857314T>C , CM000678.1:g.68857314T>C	GRCh37
NC_000016.8:g.67414815T>C	NCBI36
NG_008021.1:g.91120T>C , LRG_301:g.91120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1949T>C MANE Select	ENSP00000261769.4:p.Ile650Thr
ENST00000261769.9:c.1949T>C	ENSP00000261769.4:p.Ile650Thr
ENST00000422392.6:c.1766T>C	ENSP00000414946.2:p.Ile589Thr
ENST00000562118.1:n.167T>C
ENST00000562836.5:n.2020T>C
ENST00000566510.5:c.*615T>C	ENSP00000458139.1:n.*615T>C
ENST00000566612.5:c.*189T>C	ENSP00000454782.1:n.*189T>C
ENST00000611625.4:c.2012T>C	ENSP00000481063.1:p.Ile671Thr
ENST00000612417.4:c.1830+1292T>C	ENSP00000478360.1:n.1830+1292T>C
ENST00000621016.4:c.1865+1257T>C	ENSP00000480664.1:n.1865+1257T>C
NM_004360.3:c.1949T>C , LRG_301t1:c.1949T>C	NP_004351.1:p.Ile650Thr
XM_011523488.1:c.1214T>C	XP_011521790.1:p.Ile405Thr
XM_011523489.1:c.1214T>C	XP_011521791.1:p.Ile405Thr
NM_001317184.1:c.1766T>C	NP_001304113.1:p.Ile589Thr
NM_001317185.1:c.401T>C	NP_001304114.1:p.Ile134Thr
NM_001317186.1:c.-17T>C	NP_001304115.1:n.-17T>C
NM_004360.4:c.1949T>C	NP_004351.1:p.Ile650Thr
NM_004360.5:c.1949T>C MANE Select	NP_004351.1:p.Ile650Thr
NM_001317184.2:c.1766T>C	NP_001304113.1:p.Ile589Thr
NM_001317185.2:c.401T>C	NP_001304114.1:p.Ile134Thr
NM_001317186.2:c.-17T>C	NP_001304115.1:n.-17T>C