Canonical Allele Identifier: CA8130300
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 239898
ClinVar RCV Id: RCV000566073 RCV001462968
dbSNP Id: rs754360330
ExAC: 16:68867243 G / A
gnomAD v2: 16-68867243-G-A
gnomAD v4: 16-68833340-G-A
MyVariant Identifiers: chr16:g.68867243G>A (hg19) chr16:g.68833340G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833340G>A , CM000678.2:g.68833340G>A GRCh38
NC_000016.9:g.68867243G>A , CM000678.1:g.68867243G>A GRCh37
NC_000016.8:g.67424744G>A NCBI36
NG_008021.1:g.101049G>A , LRG_301:g.101049G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2490G>A MANE Select ENSP00000261769.4:p.Leu830=
ENST00000261769.9:c.2490G>A ENSP00000261769.4:p.Leu830=
ENST00000422392.6:c.2307G>A ENSP00000414946.2:p.Leu769=
ENST00000562118.1:n.708G>A
ENST00000562836.5:n.2561G>A
ENST00000566510.5:c.*1156G>A ENSP00000458139.1:n.*1156G>A
ENST00000566612.5:c.*730G>A ENSP00000454782.1:n.*730G>A
ENST00000611625.4:c.2553G>A ENSP00000481063.1:p.Leu851=
ENST00000612417.4:c.1854-851G>A ENSP00000478360.1:n.1854-851G>A
ENST00000621016.4:c.1866-863G>A ENSP00000480664.1:n.1866-863G>A
NM_004360.3:c.2490G>A , LRG_301t1:c.2490G>A NP_004351.1:p.Leu830=
XM_011523488.1:c.1755G>A XP_011521790.1:p.Leu585=
XM_011523489.1:c.1755G>A XP_011521791.1:p.Leu585=
NM_001317184.1:c.2307G>A NP_001304113.1:p.Leu769=
NM_001317185.1:c.942G>A NP_001304114.1:p.Leu314=
NM_001317186.1:c.525G>A NP_001304115.1:p.Leu175=
NM_004360.4:c.2490G>A NP_004351.1:p.Leu830=
NM_004360.5:c.2490G>A MANE Select NP_004351.1:p.Leu830=
NM_001317184.2:c.2307G>A NP_001304113.1:p.Leu769=
NM_001317185.2:c.942G>A NP_001304114.1:p.Leu314=
NM_001317186.2:c.525G>A NP_001304115.1:p.Leu175=
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