Canonical Allele Identifier: CA169924

Gene: CDH1

Linked Data

• ClinVar Variation Id: 142976
• ClinVar RCV Id: RCV000132483
• dbSNP Id: rs121964874
• MyVariant Identifiers: chr16:g.68857460C>G (hg19) ; chr16:g.68823557C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823557C>G , CM000678.2:g.68823557C>G	GRCh38
NC_000016.9:g.68857460C>G , CM000678.1:g.68857460C>G	GRCh37
NC_000016.8:g.67414961C>G	NCBI36
NG_008021.1:g.91266C>G , LRG_301:g.91266C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2095C>G MANE Select	ENSP00000261769.4:p.Gln699Glu
ENST00000261769.9:c.2095C>G	ENSP00000261769.4:p.Gln699Glu
ENST00000422392.6:c.1912C>G	ENSP00000414946.2:p.Gln638Glu
ENST00000562118.1:n.313C>G
ENST00000562836.5:n.2166C>G
ENST00000566510.5:c.*761C>G	ENSP00000458139.1:n.*761C>G
ENST00000566612.5:c.*335C>G	ENSP00000454782.1:n.*335C>G
ENST00000611625.4:c.2158C>G	ENSP00000481063.1:p.Gln720Glu
ENST00000612417.4:c.1830+1438C>G	ENSP00000478360.1:n.1830+1438C>G
ENST00000621016.4:c.1865+1403C>G	ENSP00000480664.1:n.1865+1403C>G
NM_004360.3:c.2095C>G , LRG_301t1:c.2095C>G	NP_004351.1:p.Gln699Glu
XM_011523488.1:c.1360C>G	XP_011521790.1:p.Gln454Glu
XM_011523489.1:c.1360C>G	XP_011521791.1:p.Gln454Glu
NM_001317184.1:c.1912C>G	NP_001304113.1:p.Gln638Glu
NM_001317185.1:c.547C>G	NP_001304114.1:p.Gln183Glu
NM_001317186.1:c.130C>G	NP_001304115.1:p.Gln44Glu
NM_004360.4:c.2095C>G	NP_004351.1:p.Gln699Glu
NM_004360.5:c.2095C>G MANE Select	NP_004351.1:p.Gln699Glu
NM_001317184.2:c.1912C>G	NP_001304113.1:p.Gln638Glu
NM_001317185.2:c.547C>G	NP_001304114.1:p.Gln183Glu
NM_001317186.2:c.130C>G	NP_001304115.1:p.Gln44Glu