Canonical Allele Identifier: CA396467168

Gene: CDH1

Linked Data

• ClinVar Variation Id: 578336
• ClinVar RCV Id: RCV000701314
• dbSNP Id: rs33969373
• MyVariant Identifiers: chr16:g.68856088C>G (hg19) ; chr16:g.68822185C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822185C>G , CM000678.2:g.68822185C>G	GRCh38
NC_000016.9:g.68856088C>G , CM000678.1:g.68856088C>G	GRCh37
NC_000016.8:g.67413589C>G	NCBI36
NG_008021.1:g.89894C>G , LRG_301:g.89894C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1896C>G MANE Select	ENSP00000261769.4:p.His632Gln
ENST00000261769.9:c.1896C>G	ENSP00000261769.4:p.His632Gln
ENST00000422392.6:c.1713C>G	ENSP00000414946.2:p.His571Gln
ENST00000562836.5:n.1967C>G
ENST00000566510.5:c.*562C>G	ENSP00000458139.1:n.*562C>G
ENST00000566612.5:c.*136C>G	ENSP00000454782.1:n.*136C>G
ENST00000611625.4:c.1959C>G	ENSP00000481063.1:p.His653Gln
ENST00000612417.4:c.1830+66C>G	ENSP00000478360.1:n.1830+66C>G
ENST00000621016.4:c.1865+31C>G	ENSP00000480664.1:n.1865+31C>G
NM_004360.3:c.1896C>G , LRG_301t1:c.1896C>G	NP_004351.1:p.His632Gln
XM_011523488.1:c.1161C>G	XP_011521790.1:p.His387Gln
XM_011523489.1:c.1161C>G	XP_011521791.1:p.His387Gln
NM_001317184.1:c.1713C>G	NP_001304113.1:p.His571Gln
NM_001317185.1:c.348C>G	NP_001304114.1:p.His116Gln
NM_001317186.1:c.-70C>G	NP_001304115.1:n.-70C>G
NM_004360.4:c.1896C>G	NP_004351.1:p.His632Gln
NM_004360.5:c.1896C>G MANE Select	NP_004351.1:p.His632Gln
NM_001317184.2:c.1713C>G	NP_001304113.1:p.His571Gln
NM_001317185.2:c.348C>G	NP_001304114.1:p.His116Gln
NM_001317186.2:c.-70C>G	NP_001304115.1:n.-70C>G