Canonical Allele Identifier: CA5546214

Gene: CDH23

Linked Data

• ClinVar Variation Id: 798960
• ClinVar RCV Id: RCV000982532 ; RCV001827113
• dbSNP Id: rs778092747
• ExAC: 10:73558151 G / A
• gnomAD v2: 10-73558151-G-A
• gnomAD v3: 10-71798394-G-A
• gnomAD v4: 10-71798394-G-A
• COSMIC: COSM2161212
• MyVariant Identifiers: chr10:g.73558151G>A (hg19) ; chr10:g.71798394G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798394G>A , CM000672.2:g.71798394G>A	GRCh38
NC_000010.10:g.73558151G>A , CM000672.1:g.73558151G>A	GRCh37
NC_000010.9:g.73228157G>A	NCBI36
NG_008835.1:g.406448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6870G>A MANE Select	ENSP00000224721.9:p.Thr2290=
ENST00000642965.1:c.803G>A	ENSP00000495222.1:n.803G>A
ENST00000647092.1:c.467G>A	ENSP00000495176.1:n.467G>A
ENST00000224721.10:c.6885G>A	ENSP00000224721.8:p.Thr2295=
ENST00000398788.4:c.150G>A	ENSP00000381768.3:p.Thr50=
ENST00000475158.1:n.406G>A
ENST00000619887.4:c.150G>A	ENSP00000478374.1:p.Thr50=
ENST00000622827.4:c.6870G>A	ENSP00000483211.1:p.Thr2290=
NM_001171933.1:c.150G>A	NP_001165404.1:p.Thr50=
NM_001171934.1:c.150G>A	NP_001165405.1:p.Thr50=
NM_022124.5:c.6870G>A	NP_071407.4:p.Thr2290=
XM_006717940.2:c.7065G>A	XP_006718003.1:p.Thr2355=
XM_006717942.2:c.6999G>A	XP_006718005.1:p.Thr2333=
XM_011540039.1:c.7062G>A	XP_011538341.1:p.Thr2354=
XM_011540040.1:c.7059G>A	XP_011538342.1:p.Thr2353=
XM_011540041.1:c.7005G>A	XP_011538343.1:p.Thr2335=
XM_011540042.1:c.6975G>A	XP_011538344.1:p.Thr2325=
XM_011540043.1:c.7065G>A	XP_011538345.1:p.Thr2355=
XM_011540044.1:c.6930G>A	XP_011538346.1:p.Thr2310=
XM_011540045.1:c.7065G>A	XP_011538347.1:p.Thr2355=
XM_011540046.1:c.6525G>A	XP_011538348.1:p.Thr2175=
XM_011540047.1:c.5883G>A	XP_011538349.1:p.Thr1961=
XM_011540052.1:c.3393G>A	XP_011538354.1:p.Thr1131=
NM_022124.6:c.6870G>A MANE Select	NP_071407.4:p.Thr2290=