Canonical Allele Identifier: CA396472325

Gene: CDH1

Linked Data

• ClinVar Variation Id: 628533
• ClinVar RCV Id: RCV000773015 ; RCV001212653
• dbSNP Id: rs1247754103
• MyVariant Identifiers: chr16:g.68867284G>C (hg19) ; chr16:g.68833381G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833381G>C , CM000678.2:g.68833381G>C	GRCh38
NC_000016.9:g.68867284G>C , CM000678.1:g.68867284G>C	GRCh37
NC_000016.8:g.67424785G>C	NCBI36
NG_008021.1:g.101090G>C , LRG_301:g.101090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2531G>C MANE Select	ENSP00000261769.4:p.Ser844Thr
ENST00000261769.9:c.2531G>C	ENSP00000261769.4:p.Ser844Thr
ENST00000422392.6:c.2348G>C	ENSP00000414946.2:p.Ser783Thr
ENST00000562118.1:n.749G>C
ENST00000562836.5:n.2602G>C
ENST00000566510.5:c.*1197G>C	ENSP00000458139.1:n.*1197G>C
ENST00000566612.5:c.*771G>C	ENSP00000454782.1:n.*771G>C
ENST00000611625.4:c.2594G>C	ENSP00000481063.1:p.Ser865Thr
ENST00000612417.4:c.1854-810G>C	ENSP00000478360.1:n.1854-810G>C
ENST00000621016.4:c.1866-822G>C	ENSP00000480664.1:n.1866-822G>C
NM_004360.3:c.2531G>C , LRG_301t1:c.2531G>C	NP_004351.1:p.Ser844Thr
XM_011523488.1:c.1796G>C	XP_011521790.1:p.Ser599Thr
XM_011523489.1:c.1796G>C	XP_011521791.1:p.Ser599Thr
NM_001317184.1:c.2348G>C	NP_001304113.1:p.Ser783Thr
NM_001317185.1:c.983G>C	NP_001304114.1:p.Ser328Thr
NM_001317186.1:c.566G>C	NP_001304115.1:p.Ser189Thr
NM_004360.4:c.2531G>C	NP_004351.1:p.Ser844Thr
NM_004360.5:c.2531G>C MANE Select	NP_004351.1:p.Ser844Thr
NM_001317184.2:c.2348G>C	NP_001304113.1:p.Ser783Thr
NM_001317185.2:c.983G>C	NP_001304114.1:p.Ser328Thr
NM_001317186.2:c.566G>C	NP_001304115.1:p.Ser189Thr