Canonical Allele Identifier: CA186575

Gene: CDH1

Linked Data

• ClinVar Variation Id: 183811
• ClinVar RCV Id: RCV000162624 ; RCV000435172 ; RCV000757066 ; RCV001086470 ; RCV003952806
• dbSNP Id: rs202075199
• ExAC: 16:68863673 C / T
• gnomAD v2: 16-68863673-C-T
• gnomAD v3: 16-68829770-C-T
• gnomAD v4: 16-68829770-C-T
• MyVariant Identifiers: chr16:g.68863673C>T (hg19) ; chr16:g.68829770C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829770C>T , CM000678.2:g.68829770C>T	GRCh38
NC_000016.9:g.68863673C>T , CM000678.1:g.68863673C>T	GRCh37
NC_000016.8:g.67421174C>T	NCBI36
NG_008021.1:g.97479C>T , LRG_301:g.97479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2412C>T MANE Select	ENSP00000261769.4:p.Pro804=
ENST00000261769.9:c.2412C>T	ENSP00000261769.4:p.Pro804=
ENST00000422392.6:c.2229C>T	ENSP00000414946.2:p.Pro743=
ENST00000562118.1:n.630C>T
ENST00000562836.5:n.2483C>T
ENST00000566510.5:c.*1078C>T	ENSP00000458139.1:n.*1078C>T
ENST00000566612.5:c.*652C>T	ENSP00000454782.1:n.*652C>T
ENST00000611625.4:c.2475C>T	ENSP00000481063.1:p.Pro825=
ENST00000612417.4:c.1853+3216C>T	ENSP00000478360.1:n.1853+3216C>T
ENST00000621016.4:c.1866-4433C>T	ENSP00000480664.1:n.1866-4433C>T
NM_004360.3:c.2412C>T , LRG_301t1:c.2412C>T	NP_004351.1:p.Pro804=
XM_011523488.1:c.1677C>T	XP_011521790.1:p.Pro559=
XM_011523489.1:c.1677C>T	XP_011521791.1:p.Pro559=
NM_001317184.1:c.2229C>T	NP_001304113.1:p.Pro743=
NM_001317185.1:c.864C>T	NP_001304114.1:p.Pro288=
NM_001317186.1:c.447C>T	NP_001304115.1:p.Pro149=
NM_004360.4:c.2412C>T	NP_004351.1:p.Pro804=
NM_004360.5:c.2412C>T MANE Select	NP_004351.1:p.Pro804=
NM_001317184.2:c.2229C>T	NP_001304113.1:p.Pro743=
NM_001317185.2:c.864C>T	NP_001304114.1:p.Pro288=
NM_001317186.2:c.447C>T	NP_001304115.1:p.Pro149=