Canonical Allele Identifier: CA157948

Gene: CDH1

Linked Data

• ClinVar Variation Id: 133845
• ClinVar RCV Id: RCV000120497 ; RCV000219561 ; RCV000229532 ; RCV000657011 ; RCV000765305
• dbSNP Id: rs587778170
• ExAC: 16:68849467 C / T
• gnomAD v2: 16-68849467-C-T
• gnomAD v3: 16-68815564-C-T
• gnomAD v4: 16-68815564-C-T
• COSMIC: COSM6016261
• MyVariant Identifiers: chr16:g.68849467C>T (hg19) ; chr16:g.68815564C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68815564C>T , CM000678.2:g.68815564C>T	GRCh38
NC_000016.9:g.68849467C>T , CM000678.1:g.68849467C>T	GRCh37
NC_000016.8:g.67406968C>T	NCBI36
NG_008021.1:g.83273C>T , LRG_301:g.83273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.1370C>T MANE Select	ENSP00000261769.4:p.Thr457Met
ENST00000261769.9:c.1370C>T	ENSP00000261769.4:p.Thr457Met
ENST00000422392.6:c.1187C>T	ENSP00000414946.2:p.Thr396Met
ENST00000562836.5:n.1441C>T
ENST00000566510.5:c.*36C>T	ENSP00000458139.1:n.*36C>T
ENST00000566612.5:c.1370C>T	ENSP00000454782.1:p.Thr457Met
ENST00000611625.4:c.1433C>T	ENSP00000481063.1:p.Thr478Met
ENST00000612417.4:c.1370C>T	ENSP00000478360.1:p.Thr457Met
ENST00000621016.4:c.1370C>T	ENSP00000480664.1:p.Thr457Met
NM_004360.3:c.1370C>T , LRG_301t1:c.1370C>T	NP_004351.1:p.Thr457Met
XM_011523488.1:c.635C>T	XP_011521790.1:p.Thr212Met
XM_011523489.1:c.635C>T	XP_011521791.1:p.Thr212Met
NM_001317184.1:c.1187C>T	NP_001304113.1:p.Thr396Met
NM_001317185.1:c.-179C>T	NP_001304114.1:n.-179C>T
NM_001317186.1:c.-450C>T	NP_001304115.1:n.-450C>T
NM_004360.4:c.1370C>T	NP_004351.1:p.Thr457Met
NM_004360.5:c.1370C>T MANE Select	NP_004351.1:p.Thr457Met
NM_001317184.2:c.1187C>T	NP_001304113.1:p.Thr396Met
NM_001317185.2:c.-179C>T	NP_001304114.1:n.-179C>T
NM_001317186.2:c.-450C>T	NP_001304115.1:n.-450C>T