Canonical Allele Identifier: CA396452258

Gene: CDH1

Linked Data

• ClinVar Variation Id: 2988816
• ClinVar RCV Id: RCV003846983
• dbSNP Id: rs2152114464
• MyVariant Identifiers: chr16:g.68772294G>C (hg19) ; chr16:g.68738391G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68738391G>C , CM000678.2:g.68738391G>C	GRCh38
NC_000016.9:g.68772294G>C , CM000678.1:g.68772294G>C	GRCh37
NC_000016.8:g.67329795G>C	NCBI36
NG_008021.1:g.6100G>C , LRG_301:g.6100G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.143G>C MANE Select	ENSP00000261769.4:p.Arg48Thr
ENST00000261769.9:c.143G>C	ENSP00000261769.4:p.Arg48Thr
ENST00000422392.6:c.143G>C	ENSP00000414946.2:p.Arg48Thr
ENST00000566510.5:c.143G>C	ENSP00000458139.1:p.Arg48Thr
ENST00000566612.5:c.143G>C	ENSP00000454782.1:p.Arg48Thr
ENST00000611625.4:c.143G>C	ENSP00000481063.1:p.Arg48Thr
ENST00000612417.4:c.143G>C	ENSP00000478360.1:p.Arg48Thr
ENST00000621016.4:c.143G>C	ENSP00000480664.1:p.Arg48Thr
NM_004360.3:c.143G>C , LRG_301t1:c.143G>C	NP_004351.1:p.Arg48Thr
NM_001317184.1:c.143G>C	NP_001304113.1:p.Arg48Thr
NM_001317185.1:c.-1473G>C	NP_001304114.1:n.-1473G>C
NM_001317186.1:c.-1677G>C	NP_001304115.1:n.-1677G>C
NM_004360.4:c.143G>C	NP_004351.1:p.Arg48Thr
NM_004360.5:c.143G>C MANE Select	NP_004351.1:p.Arg48Thr
NM_001317184.2:c.143G>C	NP_001304113.1:p.Arg48Thr
NM_001317185.2:c.-1473G>C	NP_001304114.1:n.-1473G>C
NM_001317186.2:c.-1677G>C	NP_001304115.1:n.-1677G>C