Canonical Allele Identifier: CA163797

Gene: CDH1

Linked Data

• ClinVar Variation Id: 140871
• ClinVar RCV Id: RCV000129091 ; RCV000167901 ; RCV001262763
• dbSNP Id: rs587781335
• MyVariant Identifiers: chr16:g.68863657C>G (hg19) ; chr16:g.68829754C>G (hg38)
• ERepo: CA163797/MONDO:0007648/007 ; CA163797/MONDO:0100488/007

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829754C>G , CM000678.2:g.68829754C>G	GRCh38
NC_000016.9:g.68863657C>G , CM000678.1:g.68863657C>G	GRCh37
NC_000016.8:g.67421158C>G	NCBI36
NG_008021.1:g.97463C>G , LRG_301:g.97463C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.2396C>G MANE Select	ENSP00000261769.4:p.Pro799Arg
ENST00000261769.9:c.2396C>G	ENSP00000261769.4:p.Pro799Arg
ENST00000422392.6:c.2213C>G	ENSP00000414946.2:p.Pro738Arg
ENST00000562118.1:n.614C>G
ENST00000562836.5:n.2467C>G
ENST00000566510.5:c.*1062C>G	ENSP00000458139.1:n.*1062C>G
ENST00000566612.5:c.*636C>G	ENSP00000454782.1:n.*636C>G
ENST00000611625.4:c.2459C>G	ENSP00000481063.1:p.Pro820Arg
ENST00000612417.4:c.1853+3200C>G	ENSP00000478360.1:n.1853+3200C>G
ENST00000621016.4:c.1866-4449C>G	ENSP00000480664.1:n.1866-4449C>G
NM_004360.3:c.2396C>G , LRG_301t1:c.2396C>G	NP_004351.1:p.Pro799Arg
XM_011523488.1:c.1661C>G	XP_011521790.1:p.Pro554Arg
XM_011523489.1:c.1661C>G	XP_011521791.1:p.Pro554Arg
NM_001317184.1:c.2213C>G	NP_001304113.1:p.Pro738Arg
NM_001317185.1:c.848C>G	NP_001304114.1:p.Pro283Arg
NM_001317186.1:c.431C>G	NP_001304115.1:p.Pro144Arg
NM_004360.4:c.2396C>G	NP_004351.1:p.Pro799Arg
NM_004360.5:c.2396C>G MANE Select	NP_004351.1:p.Pro799Arg
NM_001317184.2:c.2213C>G	NP_001304113.1:p.Pro738Arg
NM_001317185.2:c.848C>G	NP_001304114.1:p.Pro283Arg
NM_001317186.2:c.431C>G	NP_001304115.1:p.Pro144Arg