Canonical Allele Identifier: CA496393039
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs786202320
MyVariant Identifiers: chr16:g.68857315C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823412C>A , CM000678.2:g.68823412C>A GRCh38
NC_000016.9:g.68857315C>A , CM000678.1:g.68857315C>A GRCh37
NC_000016.8:g.67414816C>A NCBI36
NG_008021.1:g.91121C>A , LRG_301:g.91121C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1950C>A MANE Select ENSP00000261769.4:p.Ile650=
ENST00000261769.9:c.1950C>A ENSP00000261769.4:p.Ile650=
ENST00000422392.6:c.1767C>A ENSP00000414946.2:p.Ile589=
ENST00000562118.1:n.168C>A
ENST00000562836.5:n.2021C>A
ENST00000566510.5:c.*616C>A ENSP00000458139.1:n.*616C>A
ENST00000566612.5:c.*190C>A ENSP00000454782.1:n.*190C>A
ENST00000611625.4:c.2013C>A ENSP00000481063.1:p.Ile671=
ENST00000612417.4:c.1830+1293C>A ENSP00000478360.1:n.1830+1293C>A
ENST00000621016.4:c.1865+1258C>A ENSP00000480664.1:n.1865+1258C>A
NM_004360.3:c.1950C>A , LRG_301t1:c.1950C>A NP_004351.1:p.Ile650=
XM_011523488.1:c.1215C>A XP_011521790.1:p.Ile405=
XM_011523489.1:c.1215C>A XP_011521791.1:p.Ile405=
NM_001317184.1:c.1767C>A NP_001304113.1:p.Ile589=
NM_001317185.1:c.402C>A NP_001304114.1:p.Ile134=
NM_001317186.1:c.-16C>A NP_001304115.1:n.-16C>A
NM_004360.4:c.1950C>A NP_004351.1:p.Ile650=
NM_004360.5:c.1950C>A MANE Select NP_004351.1:p.Ile650=
NM_001317184.2:c.1767C>A NP_001304113.1:p.Ile589=
NM_001317185.2:c.402C>A NP_001304114.1:p.Ile134=
NM_001317186.2:c.-16C>A NP_001304115.1:n.-16C>A