Canonical Allele Identifier: CA396471217
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs1961432538
MyVariant Identifiers: chr16:g.68863663C>A (hg19) chr16:g.68829760C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829760C>A , CM000678.2:g.68829760C>A GRCh38
NC_000016.9:g.68863663C>A , CM000678.1:g.68863663C>A GRCh37
NC_000016.8:g.67421164C>A NCBI36
NG_008021.1:g.97469C>A , LRG_301:g.97469C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2402C>A MANE Select ENSP00000261769.4:p.Pro801His
ENST00000261769.9:c.2402C>A ENSP00000261769.4:p.Pro801His
ENST00000422392.6:c.2219C>A ENSP00000414946.2:p.Pro740His
ENST00000562118.1:n.620C>A
ENST00000562836.5:n.2473C>A
ENST00000566510.5:c.*1068C>A ENSP00000458139.1:n.*1068C>A
ENST00000566612.5:c.*642C>A ENSP00000454782.1:n.*642C>A
ENST00000611625.4:c.2465C>A ENSP00000481063.1:p.Pro822His
ENST00000612417.4:c.1853+3206C>A ENSP00000478360.1:n.1853+3206C>A
ENST00000621016.4:c.1866-4443C>A ENSP00000480664.1:n.1866-4443C>A
NM_004360.3:c.2402C>A , LRG_301t1:c.2402C>A NP_004351.1:p.Pro801His
XM_011523488.1:c.1667C>A XP_011521790.1:p.Pro556His
XM_011523489.1:c.1667C>A XP_011521791.1:p.Pro556His
NM_001317184.1:c.2219C>A NP_001304113.1:p.Pro740His
NM_001317185.1:c.854C>A NP_001304114.1:p.Pro285His
NM_001317186.1:c.437C>A NP_001304115.1:p.Pro146His
NM_004360.4:c.2402C>A NP_004351.1:p.Pro801His
NM_004360.5:c.2402C>A MANE Select NP_004351.1:p.Pro801His
NM_001317184.2:c.2219C>A NP_001304113.1:p.Pro740His
NM_001317185.2:c.854C>A NP_001304114.1:p.Pro285His
NM_001317186.2:c.437C>A NP_001304115.1:p.Pro146His
Search 100 bp 5'
Search 100 bp 3'