Canonical Allele Identifier: CA283312091

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1110277
• ClinVar RCV Id: RCV001436464
• dbSNP Id: rs995805388
• MyVariant Identifiers: chr16:g.68856043A>C (hg19) ; chr16:g.68822140A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822140A>C , CM000678.2:g.68822140A>C	GRCh38
NC_000016.9:g.68856043A>C , CM000678.1:g.68856043A>C	GRCh37
NC_000016.8:g.67413544A>C	NCBI36
NG_008021.1:g.89849A>C , LRG_301:g.89849A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1851A>C MANE Select	ENSP00000261769.4:p.Ala617=
ENST00000261769.9:c.1851A>C	ENSP00000261769.4:p.Ala617=
ENST00000422392.6:c.1668A>C	ENSP00000414946.2:p.Ala556=
ENST00000562836.5:n.1922A>C
ENST00000566510.5:c.*517A>C	ENSP00000458139.1:n.*517A>C
ENST00000566612.5:c.*91A>C	ENSP00000454782.1:n.*91A>C
ENST00000611625.4:c.1914A>C	ENSP00000481063.1:p.Ala638=
ENST00000612417.4:c.1830+21A>C	ENSP00000478360.1:n.1830+21A>C
ENST00000621016.4:c.1851A>C	ENSP00000480664.1:p.Ala617=
NM_004360.3:c.1851A>C , LRG_301t1:c.1851A>C	NP_004351.1:p.Ala617=
XM_011523488.1:c.1116A>C	XP_011521790.1:p.Ala372=
XM_011523489.1:c.1116A>C	XP_011521791.1:p.Ala372=
NM_001317184.1:c.1668A>C	NP_001304113.1:p.Ala556=
NM_001317185.1:c.303A>C	NP_001304114.1:p.Ala101=
NM_001317186.1:c.-115A>C	NP_001304115.1:n.-115A>C
NM_004360.4:c.1851A>C	NP_004351.1:p.Ala617=
NM_004360.5:c.1851A>C MANE Select	NP_004351.1:p.Ala617=
NM_001317184.2:c.1668A>C	NP_001304113.1:p.Ala556=
NM_001317185.2:c.303A>C	NP_001304114.1:p.Ala101=
NM_001317186.2:c.-115A>C	NP_001304115.1:n.-115A>C