Canonical Allele Identifier: CA496393050

Gene: CDH1

Linked Data

• ClinVar Variation Id: 483263
• ClinVar RCV Id: RCV000573357 ; RCV000610884 ; RCV002060463
• dbSNP Id: rs767045364
• gnomAD v4: 16-68833331-T-C
• MyVariant Identifiers: chr16:g.68867234T>C (hg19) ; chr16:g.68833331T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833331T>C , CM000678.2:g.68833331T>C	GRCh38
NC_000016.9:g.68867234T>C , CM000678.1:g.68867234T>C	GRCh37
NC_000016.8:g.67424735T>C	NCBI36
NG_008021.1:g.101040T>C , LRG_301:g.101040T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2481T>C MANE Select	ENSP00000261769.4:p.Tyr827=
ENST00000261769.9:c.2481T>C	ENSP00000261769.4:p.Tyr827=
ENST00000422392.6:c.2298T>C	ENSP00000414946.2:p.Tyr766=
ENST00000562118.1:n.699T>C
ENST00000562836.5:n.2552T>C
ENST00000566510.5:c.*1147T>C	ENSP00000458139.1:n.*1147T>C
ENST00000566612.5:c.*721T>C	ENSP00000454782.1:n.*721T>C
ENST00000611625.4:c.2544T>C	ENSP00000481063.1:p.Tyr848=
ENST00000612417.4:c.1854-860T>C	ENSP00000478360.1:n.1854-860T>C
ENST00000621016.4:c.1866-872T>C	ENSP00000480664.1:n.1866-872T>C
NM_004360.3:c.2481T>C , LRG_301t1:c.2481T>C	NP_004351.1:p.Tyr827=
XM_011523488.1:c.1746T>C	XP_011521790.1:p.Tyr582=
XM_011523489.1:c.1746T>C	XP_011521791.1:p.Tyr582=
NM_001317184.1:c.2298T>C	NP_001304113.1:p.Tyr766=
NM_001317185.1:c.933T>C	NP_001304114.1:p.Tyr311=
NM_001317186.1:c.516T>C	NP_001304115.1:p.Tyr172=
NM_004360.4:c.2481T>C	NP_004351.1:p.Tyr827=
NM_004360.5:c.2481T>C MANE Select	NP_004351.1:p.Tyr827=
NM_001317184.2:c.2298T>C	NP_001304113.1:p.Tyr766=
NM_001317185.2:c.933T>C	NP_001304114.1:p.Tyr311=
NM_001317186.2:c.516T>C	NP_001304115.1:p.Tyr172=