Canonical Allele Identifier: CA496393041
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2850041
ClinVar RCV Id: RCV003625832
dbSNP Id: rs755658014
MyVariant Identifiers: chr16:g.68867228G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833325G>C , CM000678.2:g.68833325G>C GRCh38
NC_000016.9:g.68867228G>C , CM000678.1:g.68867228G>C GRCh37
NC_000016.8:g.67424729G>C NCBI36
NG_008021.1:g.101034G>C , LRG_301:g.101034G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2475G>C MANE Select ENSP00000261769.4:p.Pro825=
ENST00000261769.9:c.2475G>C ENSP00000261769.4:p.Pro825=
ENST00000422392.6:c.2292G>C ENSP00000414946.2:p.Pro764=
ENST00000562118.1:n.693G>C
ENST00000562836.5:n.2546G>C
ENST00000566510.5:c.*1141G>C ENSP00000458139.1:n.*1141G>C
ENST00000566612.5:c.*715G>C ENSP00000454782.1:n.*715G>C
ENST00000611625.4:c.2538G>C ENSP00000481063.1:p.Pro846=
ENST00000612417.4:c.1854-866G>C ENSP00000478360.1:n.1854-866G>C
ENST00000621016.4:c.1866-878G>C ENSP00000480664.1:n.1866-878G>C
NM_004360.3:c.2475G>C , LRG_301t1:c.2475G>C NP_004351.1:p.Pro825=
XM_011523488.1:c.1740G>C XP_011521790.1:p.Pro580=
XM_011523489.1:c.1740G>C XP_011521791.1:p.Pro580=
NM_001317184.1:c.2292G>C NP_001304113.1:p.Pro764=
NM_001317185.1:c.927G>C NP_001304114.1:p.Pro309=
NM_001317186.1:c.510G>C NP_001304115.1:p.Pro170=
NM_004360.4:c.2475G>C NP_004351.1:p.Pro825=
NM_004360.5:c.2475G>C MANE Select NP_004351.1:p.Pro825=
NM_001317184.2:c.2292G>C NP_001304113.1:p.Pro764=
NM_001317185.2:c.927G>C NP_001304114.1:p.Pro309=
NM_001317186.2:c.510G>C NP_001304115.1:p.Pro170=
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