Canonical Allele Identifier: CA496152753
Gene: CDH1 HGNC NCBI

Linked Data

dbSNP Id: rs863224397
MyVariant Identifiers: chr16:g.68844102C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810199C>A , CM000678.2:g.68810199C>A GRCh38
NC_000016.9:g.68844102C>A , CM000678.1:g.68844102C>A GRCh37
NC_000016.8:g.67401603C>A NCBI36
NG_008021.1:g.77908C>A , LRG_301:g.77908C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.690C>A MANE Select ENSP00000261769.4:p.Leu230=
ENST00000261769.9:c.690C>A ENSP00000261769.4:p.Leu230=
ENST00000422392.6:c.690C>A ENSP00000414946.2:p.Leu230=
ENST00000561751.1:c.454+1351C>A
ENST00000562836.5:n.761C>A
ENST00000566510.5:c.534C>A ENSP00000458139.1:p.Leu178=
ENST00000566612.5:c.690C>A ENSP00000454782.1:p.Leu230=
ENST00000611625.4:c.690C>A ENSP00000481063.1:p.Leu230=
ENST00000612417.4:c.690C>A ENSP00000478360.1:p.Leu230=
ENST00000621016.4:c.690C>A ENSP00000480664.1:p.Leu230=
NM_004360.3:c.690C>A , LRG_301t1:c.690C>A NP_004351.1:p.Leu230=
XM_011523488.1:c.-46C>A XP_011521790.1:n.-46C>A
XM_011523489.1:c.-46C>A XP_011521791.1:n.-46C>A
NM_001317184.1:c.690C>A NP_001304113.1:p.Leu230=
NM_001317185.1:c.-926C>A NP_001304114.1:n.-926C>A
NM_001317186.1:c.-1130C>A NP_001304115.1:n.-1130C>A
NM_004360.4:c.690C>A NP_004351.1:p.Leu230=
NM_004360.5:c.690C>A MANE Select NP_004351.1:p.Leu230=
NM_001317184.2:c.690C>A NP_001304113.1:p.Leu230=
NM_001317185.2:c.-926C>A NP_001304114.1:n.-926C>A
NM_001317186.2:c.-1130C>A NP_001304115.1:n.-1130C>A