Canonical Allele Identifier: CA348729

Gene: CDH1

Linked Data

• ClinVar Variation Id: 220630
• ClinVar RCV Id: RCV000204502
• dbSNP Id: rs864622612
• MyVariant Identifiers: chr16:g.68856000G>C (hg19) ; chr16:g.68822097G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68822097G>C , CM000678.2:g.68822097G>C	GRCh38
NC_000016.9:g.68856000G>C , CM000678.1:g.68856000G>C	GRCh37
NC_000016.8:g.67413501G>C	NCBI36
NG_008021.1:g.89806G>C , LRG_301:g.89806G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1808G>C MANE Select	ENSP00000261769.4:p.Cys603Ser
ENST00000261769.9:c.1808G>C	ENSP00000261769.4:p.Cys603Ser
ENST00000422392.6:c.1625G>C	ENSP00000414946.2:p.Cys542Ser
ENST00000562836.5:n.1879G>C
ENST00000566510.5:c.*474G>C	ENSP00000458139.1:n.*474G>C
ENST00000566612.5:c.*48G>C	ENSP00000454782.1:n.*48G>C
ENST00000611625.4:c.1871G>C	ENSP00000481063.1:p.Cys624Ser
ENST00000612417.4:c.1808G>C	ENSP00000478360.1:p.Cys603Ser
ENST00000621016.4:c.1808G>C	ENSP00000480664.1:p.Cys603Ser
NM_004360.3:c.1808G>C , LRG_301t1:c.1808G>C	NP_004351.1:p.Cys603Ser
XM_011523488.1:c.1073G>C	XP_011521790.1:p.Cys358Ser
XM_011523489.1:c.1073G>C	XP_011521791.1:p.Cys358Ser
NM_001317184.1:c.1625G>C	NP_001304113.1:p.Cys542Ser
NM_001317185.1:c.260G>C	NP_001304114.1:p.Cys87Ser
NM_001317186.1:c.-158G>C	NP_001304115.1:n.-158G>C
NM_004360.4:c.1808G>C	NP_004351.1:p.Cys603Ser
NM_004360.5:c.1808G>C MANE Select	NP_004351.1:p.Cys603Ser
NM_001317184.2:c.1625G>C	NP_001304113.1:p.Cys542Ser
NM_001317185.2:c.260G>C	NP_001304114.1:p.Cys87Ser
NM_001317186.2:c.-158G>C	NP_001304115.1:n.-158G>C