Canonical Allele Identifier: CA180727

Gene: CDH23

Linked Data

• ClinVar Variation Id: 177767
• ClinVar RCV Id: RCV000154384 ; RCV001053772 ; RCV001102961 ; RCV001102962 ; RCV001276918 ; RCV001375066
• dbSNP Id: rs201076440
• ExAC: 10:73567275 G / A
• gnomAD v2: 10-73567275-G-A
• gnomAD v3: 10-71807518-G-A
• gnomAD v4: 10-71807518-G-A
• COSMIC: COSM3375524
• MyVariant Identifiers: chr10:g.73567275G>A (hg19) ; chr10:g.71807518G>A (hg38)
• PubMed: PMID:18429043

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807518G>A , CM000672.2:g.71807518G>A	GRCh38
NC_000010.10:g.73567275G>A , CM000672.1:g.73567275G>A	GRCh37
NC_000010.9:g.73237281G>A	NCBI36
NG_008835.1:g.415572G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8311G>A MANE Select	ENSP00000224721.9:p.Gly2771Ser
ENST00000642965.1:c.2244G>A	ENSP00000495222.1:n.2244G>A
ENST00000647092.1:c.1908G>A	ENSP00000495176.1:n.1908G>A
ENST00000224721.10:c.8326G>A	ENSP00000224721.8:p.Gly2776Ser
ENST00000398788.4:c.1591G>A	ENSP00000381768.3:p.Gly531Ser
ENST00000475158.1:n.1847G>A
ENST00000619887.4:c.1591G>A	ENSP00000478374.1:p.Gly531Ser
ENST00000622827.4:c.8311G>A	ENSP00000483211.1:p.Gly2771Ser
NM_001171933.1:c.1591G>A	NP_001165404.1:p.Gly531Ser
NM_001171934.1:c.1591G>A	NP_001165405.1:p.Gly531Ser
NM_022124.5:c.8311G>A	NP_071407.4:p.Gly2771Ser
XM_006717940.2:c.8506G>A	XP_006718003.1:p.Gly2836Ser
XM_006717942.2:c.8440G>A	XP_006718005.1:p.Gly2814Ser
XM_011540039.1:c.8503G>A	XP_011538341.1:p.Gly2835Ser
XM_011540040.1:c.8500G>A	XP_011538342.1:p.Gly2834Ser
XM_011540041.1:c.8446G>A	XP_011538343.1:p.Gly2816Ser
XM_011540042.1:c.8416G>A	XP_011538344.1:p.Gly2806Ser
XM_011540043.1:c.8506G>A	XP_011538345.1:p.Gly2836Ser
XM_011540044.1:c.8371G>A	XP_011538346.1:p.Gly2791Ser
XM_011540045.1:c.8506G>A	XP_011538347.1:p.Gly2836Ser
XM_011540046.1:c.7966G>A	XP_011538348.1:p.Gly2656Ser
XM_011540047.1:c.7324G>A	XP_011538349.1:p.Gly2442Ser
XM_011540052.1:c.4834G>A	XP_011538354.1:p.Gly1612Ser
NM_022124.6:c.8311G>A MANE Select	NP_071407.4:p.Gly2771Ser