Canonical Allele Identifier: CA396457751

Gene: CDH1

Linked Data

• ClinVar Variation Id: 463784
• ClinVar RCV Id: RCV000554684 ; RCV001191180
• dbSNP Id: rs1555515224
• MyVariant Identifiers: chr16:g.68842437T>G (hg19) ; chr16:g.68808534T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808534T>G , CM000678.2:g.68808534T>G	GRCh38
NC_000016.9:g.68842437T>G , CM000678.1:g.68842437T>G	GRCh37
NC_000016.8:g.67399938T>G	NCBI36
NG_008021.1:g.76243T>G , LRG_301:g.76243T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.498T>G MANE Select	ENSP00000261769.4:p.Asn166Lys
ENST00000261769.9:c.498T>G	ENSP00000261769.4:p.Asn166Lys
ENST00000422392.6:c.498T>G	ENSP00000414946.2:p.Asn166Lys
ENST00000561751.1:c.265T>G
ENST00000562836.5:n.569T>G
ENST00000564676.5:n.780T>G
ENST00000564745.1:n.493T>G
ENST00000566510.5:c.498T>G	ENSP00000458139.1:p.Asn166Lys
ENST00000566612.5:c.498T>G	ENSP00000454782.1:p.Asn166Lys
ENST00000567320.1:n.8T>G
ENST00000611625.4:c.498T>G	ENSP00000481063.1:p.Asn166Lys
ENST00000612417.4:c.498T>G	ENSP00000478360.1:p.Asn166Lys
ENST00000621016.4:c.498T>G	ENSP00000480664.1:p.Asn166Lys
NM_004360.3:c.498T>G , LRG_301t1:c.498T>G	NP_004351.1:p.Asn166Lys
XM_011523488.1:c.-238T>G	XP_011521790.1:n.-238T>G
XM_011523489.1:c.-238T>G	XP_011521791.1:n.-238T>G
NM_001317184.1:c.498T>G	NP_001304113.1:p.Asn166Lys
NM_001317185.1:c.-1118T>G	NP_001304114.1:n.-1118T>G
NM_001317186.1:c.-1322T>G	NP_001304115.1:n.-1322T>G
NM_004360.4:c.498T>G	NP_004351.1:p.Asn166Lys
NM_004360.5:c.498T>G MANE Select	NP_004351.1:p.Asn166Lys
NM_001317184.2:c.498T>G	NP_001304113.1:p.Asn166Lys
NM_001317185.2:c.-1118T>G	NP_001304114.1:n.-1118T>G
NM_001317186.2:c.-1322T>G	NP_001304115.1:n.-1322T>G