Canonical Allele Identifier: CA16620246

Gene: CDH1

Linked Data

• ClinVar Variation Id: 421392
• ClinVar RCV Id: RCV000478907
• dbSNP Id: rs587782359
• COSMIC: COSM1742969
• MyVariant Identifiers: chr16:g.68846147C>G (hg19) ; chr16:g.68812244C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68812244C>G , CM000678.2:g.68812244C>G	GRCh38
NC_000016.9:g.68846147C>G , CM000678.1:g.68846147C>G	GRCh37
NC_000016.8:g.67403648C>G	NCBI36
NG_008021.1:g.79953C>G , LRG_301:g.79953C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261769.10:c.1118C>G MANE Select	ENSP00000261769.4:p.Pro373Arg
ENST00000261769.9:c.1118C>G	ENSP00000261769.4:p.Pro373Arg
ENST00000422392.6:c.1118C>G	ENSP00000414946.2:p.Pro373Arg
ENST00000562836.5:n.1189C>G
ENST00000565810.1:n.162C>G
ENST00000566510.5:c.962C>G	ENSP00000458139.1:p.Pro321Arg
ENST00000566612.5:c.1118C>G	ENSP00000454782.1:p.Pro373Arg
ENST00000611625.4:c.1118C>G	ENSP00000481063.1:p.Pro373Arg
ENST00000612417.4:c.1118C>G	ENSP00000478360.1:p.Pro373Arg
ENST00000621016.4:c.1118C>G	ENSP00000480664.1:p.Pro373Arg
NM_004360.3:c.1118C>G , LRG_301t1:c.1118C>G	NP_004351.1:p.Pro373Arg
XM_011523488.1:c.383C>G	XP_011521790.1:p.Pro128Arg
XM_011523489.1:c.383C>G	XP_011521791.1:p.Pro128Arg
NM_001317184.1:c.1118C>G	NP_001304113.1:p.Pro373Arg
NM_001317185.1:c.-498C>G	NP_001304114.1:n.-498C>G
NM_001317186.1:c.-702C>G	NP_001304115.1:n.-702C>G
NM_004360.4:c.1118C>G	NP_004351.1:p.Pro373Arg
NM_004360.5:c.1118C>G MANE Select	NP_004351.1:p.Pro373Arg
NM_001317184.2:c.1118C>G	NP_001304113.1:p.Pro373Arg
NM_001317185.2:c.-498C>G	NP_001304114.1:n.-498C>G
NM_001317186.2:c.-702C>G	NP_001304115.1:n.-702C>G