Canonical Allele Identifier: CA396467613

Gene: CDH1

Linked Data

• ClinVar Variation Id: 841518
• ClinVar RCV Id: RCV001043759 ; RCV001805990
• dbSNP Id: rs1275496047
• gnomAD v2: 16-68857355-A-C
• gnomAD v4: 16-68823452-A-C
• MyVariant Identifiers: chr16:g.68857355A>C (hg19) ; chr16:g.68823452A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68823452A>C , CM000678.2:g.68823452A>C	GRCh38
NC_000016.9:g.68857355A>C , CM000678.1:g.68857355A>C	GRCh37
NC_000016.8:g.67414856A>C	NCBI36
NG_008021.1:g.91161A>C , LRG_301:g.91161A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1990A>C MANE Select	ENSP00000261769.4:p.Lys664Gln
ENST00000261769.9:c.1990A>C	ENSP00000261769.4:p.Lys664Gln
ENST00000422392.6:c.1807A>C	ENSP00000414946.2:p.Lys603Gln
ENST00000562118.1:n.208A>C
ENST00000562836.5:n.2061A>C
ENST00000566510.5:c.*656A>C	ENSP00000458139.1:n.*656A>C
ENST00000566612.5:c.*230A>C	ENSP00000454782.1:n.*230A>C
ENST00000611625.4:c.2053A>C	ENSP00000481063.1:p.Lys685Gln
ENST00000612417.4:c.1830+1333A>C	ENSP00000478360.1:n.1830+1333A>C
ENST00000621016.4:c.1865+1298A>C	ENSP00000480664.1:n.1865+1298A>C
NM_004360.3:c.1990A>C , LRG_301t1:c.1990A>C	NP_004351.1:p.Lys664Gln
XM_011523488.1:c.1255A>C	XP_011521790.1:p.Lys419Gln
XM_011523489.1:c.1255A>C	XP_011521791.1:p.Lys419Gln
NM_001317184.1:c.1807A>C	NP_001304113.1:p.Lys603Gln
NM_001317185.1:c.442A>C	NP_001304114.1:p.Lys148Gln
NM_001317186.1:c.25A>C	NP_001304115.1:p.Lys9Gln
NM_004360.4:c.1990A>C	NP_004351.1:p.Lys664Gln
NM_004360.5:c.1990A>C MANE Select	NP_004351.1:p.Lys664Gln
NM_001317184.2:c.1807A>C	NP_001304113.1:p.Lys603Gln
NM_001317185.2:c.442A>C	NP_001304114.1:p.Lys148Gln
NM_001317186.2:c.25A>C	NP_001304115.1:p.Lys9Gln