Canonical Allele Identifier: CA396472731

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1389246
• ClinVar RCV Id: RCV001887082
• dbSNP Id: rs2152144190
• MyVariant Identifiers: chr16:g.68867365A>C (hg19) ; chr16:g.68833462A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68833462A>C , CM000678.2:g.68833462A>C	GRCh38
NC_000016.9:g.68867365A>C , CM000678.1:g.68867365A>C	GRCh37
NC_000016.8:g.67424866A>C	NCBI36
NG_008021.1:g.101171A>C , LRG_301:g.101171A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2612A>C MANE Select	ENSP00000261769.4:p.Lys871Thr
ENST00000261769.9:c.2612A>C	ENSP00000261769.4:p.Lys871Thr
ENST00000422392.6:c.2429A>C	ENSP00000414946.2:p.Lys810Thr
ENST00000562118.1:n.830A>C
ENST00000562836.5:n.2683A>C
ENST00000566510.5:c.*1278A>C	ENSP00000458139.1:n.*1278A>C
ENST00000566612.5:c.*852A>C	ENSP00000454782.1:n.*852A>C
ENST00000611625.4:c.2675A>C	ENSP00000481063.1:p.Lys892Thr
ENST00000612417.4:c.1854-729A>C	ENSP00000478360.1:n.1854-729A>C
ENST00000621016.4:c.1866-741A>C	ENSP00000480664.1:n.1866-741A>C
NM_004360.3:c.2612A>C , LRG_301t1:c.2612A>C	NP_004351.1:p.Lys871Thr
XM_011523488.1:c.1877A>C	XP_011521790.1:p.Lys626Thr
XM_011523489.1:c.1877A>C	XP_011521791.1:p.Lys626Thr
NM_001317184.1:c.2429A>C	NP_001304113.1:p.Lys810Thr
NM_001317185.1:c.1064A>C	NP_001304114.1:p.Lys355Thr
NM_001317186.1:c.647A>C	NP_001304115.1:p.Lys216Thr
NM_004360.4:c.2612A>C	NP_004351.1:p.Lys871Thr
NM_004360.5:c.2612A>C MANE Select	NP_004351.1:p.Lys871Thr
NM_001317184.2:c.2429A>C	NP_001304113.1:p.Lys810Thr
NM_001317185.2:c.1064A>C	NP_001304114.1:p.Lys355Thr
NM_001317186.2:c.647A>C	NP_001304115.1:p.Lys216Thr