Canonical Allele Identifier: CA197632

Gene: CDH1

Linked Data

• ClinVar Variation Id: 187430
• ClinVar RCV Id: RCV000167157 ; RCV000558245
• dbSNP Id: rs786203728
• gnomAD v3: 16-68811841-C-T
• gnomAD v4: 16-68811841-C-T
• MyVariant Identifiers: chr16:g.68845744C>T (hg19) ; chr16:g.68811841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68811841C>T , CM000678.2:g.68811841C>T	GRCh38
NC_000016.9:g.68845744C>T , CM000678.1:g.68845744C>T	GRCh37
NC_000016.8:g.67403245C>T	NCBI36
NG_008021.1:g.79550C>T , LRG_301:g.79550C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.990C>T MANE Select	ENSP00000261769.4:p.Thr330=
ENST00000261769.9:c.990C>T	ENSP00000261769.4:p.Thr330=
ENST00000422392.6:c.990C>T	ENSP00000414946.2:p.Thr330=
ENST00000561751.1:c.612C>T
ENST00000562836.5:n.1061C>T
ENST00000566510.5:c.834C>T	ENSP00000458139.1:p.Thr278=
ENST00000566612.5:c.990C>T	ENSP00000454782.1:p.Thr330=
ENST00000611625.4:c.990C>T	ENSP00000481063.1:p.Thr330=
ENST00000612417.4:c.990C>T	ENSP00000478360.1:p.Thr330=
ENST00000621016.4:c.990C>T	ENSP00000480664.1:p.Thr330=
NM_004360.3:c.990C>T , LRG_301t1:c.990C>T	NP_004351.1:p.Thr330=
XM_011523488.1:c.255C>T	XP_011521790.1:p.Thr85=
XM_011523489.1:c.255C>T	XP_011521791.1:p.Thr85=
NM_001317184.1:c.990C>T	NP_001304113.1:p.Thr330=
NM_001317185.1:c.-626C>T	NP_001304114.1:n.-626C>T
NM_001317186.1:c.-830C>T	NP_001304115.1:n.-830C>T
NM_004360.4:c.990C>T	NP_004351.1:p.Thr330=
NM_004360.5:c.990C>T MANE Select	NP_004351.1:p.Thr330=
NM_001317184.2:c.990C>T	NP_001304113.1:p.Thr330=
NM_001317185.2:c.-626C>T	NP_001304114.1:n.-626C>T
NM_001317186.2:c.-830C>T	NP_001304115.1:n.-830C>T