Canonical Allele Identifier: CA8130148

Gene: CDH1

Linked Data

• ClinVar Variation Id: 668543
• ClinVar RCV Id: RCV000827456 ; RCV002067455 ; RCV003584769
• dbSNP Id: rs763862527
• ExAC: 16:68855959 T / C
• gnomAD v2: 16-68855959-T-C
• gnomAD v4: 16-68822056-T-C
• MyVariant Identifiers: chr16:g.68855959T>C (hg19) ; chr16:g.68822056T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822056T>C , CM000678.2:g.68822056T>C	GRCh38
NC_000016.9:g.68855959T>C , CM000678.1:g.68855959T>C	GRCh37
NC_000016.8:g.67413460T>C	NCBI36
NG_008021.1:g.89765T>C , LRG_301:g.89765T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1767T>C MANE Select	ENSP00000261769.4:p.Asn589=
ENST00000261769.9:c.1767T>C	ENSP00000261769.4:p.Asn589=
ENST00000422392.6:c.1584T>C	ENSP00000414946.2:p.Asn528=
ENST00000562836.5:n.1838T>C
ENST00000566510.5:c.*433T>C	ENSP00000458139.1:n.*433T>C
ENST00000566612.5:c.*7T>C	ENSP00000454782.1:n.*7T>C
ENST00000611625.4:c.1830T>C	ENSP00000481063.1:p.Asn610=
ENST00000612417.4:c.1767T>C	ENSP00000478360.1:p.Asn589=
ENST00000621016.4:c.1767T>C	ENSP00000480664.1:p.Asn589=
NM_004360.3:c.1767T>C , LRG_301t1:c.1767T>C	NP_004351.1:p.Asn589=
XM_011523488.1:c.1032T>C	XP_011521790.1:p.Asn344=
XM_011523489.1:c.1032T>C	XP_011521791.1:p.Asn344=
NM_001317184.1:c.1584T>C	NP_001304113.1:p.Asn528=
NM_001317185.1:c.219T>C	NP_001304114.1:p.Asn73=
NM_001317186.1:c.-199T>C	NP_001304115.1:n.-199T>C
NM_004360.4:c.1767T>C	NP_004351.1:p.Asn589=
NM_004360.5:c.1767T>C MANE Select	NP_004351.1:p.Asn589=
NM_001317184.2:c.1584T>C	NP_001304113.1:p.Asn528=
NM_001317185.2:c.219T>C	NP_001304114.1:p.Asn73=
NM_001317186.2:c.-199T>C	NP_001304115.1:n.-199T>C