Canonical Allele Identifier: CA396465237

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1777323
• ClinVar RCV Id: RCV002403712
• dbSNP Id: rs2152136922
• MyVariant Identifiers: chr16:g.68853271G>C (hg19) ; chr16:g.68819368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68819368G>C , CM000678.2:g.68819368G>C	GRCh38
NC_000016.9:g.68853271G>C , CM000678.1:g.68853271G>C	GRCh37
NC_000016.8:g.67410772G>C	NCBI36
NG_008021.1:g.87077G>C , LRG_301:g.87077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1654G>C MANE Select	ENSP00000261769.4:p.Asp552His
ENST00000261769.9:c.1654G>C	ENSP00000261769.4:p.Asp552His
ENST00000422392.6:c.1471G>C	ENSP00000414946.2:p.Asp491His
ENST00000562836.5:n.1725G>C
ENST00000566510.5:c.*320G>C	ENSP00000458139.1:n.*320G>C
ENST00000566612.5:c.1566-2633G>C	ENSP00000454782.1:n.1566-2633G>C
ENST00000611625.4:c.1717G>C	ENSP00000481063.1:p.Asp573His
ENST00000612417.4:c.1654G>C	ENSP00000478360.1:p.Asp552His
ENST00000621016.4:c.1654G>C	ENSP00000480664.1:p.Asp552His
NM_004360.3:c.1654G>C , LRG_301t1:c.1654G>C	NP_004351.1:p.Asp552His
XM_011523488.1:c.919G>C	XP_011521790.1:p.Asp307His
XM_011523489.1:c.919G>C	XP_011521791.1:p.Asp307His
NM_001317184.1:c.1471G>C	NP_001304113.1:p.Asp491His
NM_001317185.1:c.106G>C	NP_001304114.1:p.Asp36His
NM_001317186.1:c.-254-2633G>C	NP_001304115.1:n.-254-2633G>C
NM_004360.4:c.1654G>C	NP_004351.1:p.Asp552His
NM_004360.5:c.1654G>C MANE Select	NP_004351.1:p.Asp552His
NM_001317184.2:c.1471G>C	NP_001304113.1:p.Asp491His
NM_001317185.2:c.106G>C	NP_001304114.1:p.Asp36His
NM_001317186.2:c.-254-2633G>C	NP_001304115.1:n.-254-2633G>C