Canonical Allele Identifier: CA188180

Gene: CDH1

Linked Data

• ClinVar Variation Id: 184198
• ClinVar RCV Id: RCV000163393 ; RCV000536428 ; RCV001170353
• dbSNP Id: rs786201329
• gnomAD v4: 16-68822149-T-G
• MyVariant Identifiers: chr16:g.68856052T>G (hg19) ; chr16:g.68822149T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822149T>G , CM000678.2:g.68822149T>G	GRCh38
NC_000016.9:g.68856052T>G , CM000678.1:g.68856052T>G	GRCh37
NC_000016.8:g.67413553T>G	NCBI36
NG_008021.1:g.89858T>G , LRG_301:g.89858T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1860T>G MANE Select	ENSP00000261769.4:p.Pro620=
ENST00000261769.9:c.1860T>G	ENSP00000261769.4:p.Pro620=
ENST00000422392.6:c.1677T>G	ENSP00000414946.2:p.Pro559=
ENST00000562836.5:n.1931T>G
ENST00000566510.5:c.*526T>G	ENSP00000458139.1:n.*526T>G
ENST00000566612.5:c.*100T>G	ENSP00000454782.1:n.*100T>G
ENST00000611625.4:c.1923T>G	ENSP00000481063.1:p.Pro641=
ENST00000612417.4:c.1830+30T>G	ENSP00000478360.1:n.1830+30T>G
ENST00000621016.4:c.1860T>G	ENSP00000480664.1:p.Pro620=
NM_004360.3:c.1860T>G , LRG_301t1:c.1860T>G	NP_004351.1:p.Pro620=
XM_011523488.1:c.1125T>G	XP_011521790.1:p.Pro375=
XM_011523489.1:c.1125T>G	XP_011521791.1:p.Pro375=
NM_001317184.1:c.1677T>G	NP_001304113.1:p.Pro559=
NM_001317185.1:c.312T>G	NP_001304114.1:p.Pro104=
NM_001317186.1:c.-106T>G	NP_001304115.1:n.-106T>G
NM_004360.4:c.1860T>G	NP_004351.1:p.Pro620=
NM_004360.5:c.1860T>G MANE Select	NP_004351.1:p.Pro620=
NM_001317184.2:c.1677T>G	NP_001304113.1:p.Pro559=
NM_001317185.2:c.312T>G	NP_001304114.1:p.Pro104=
NM_001317186.2:c.-106T>G	NP_001304115.1:n.-106T>G