Canonical Allele Identifier: CA5546624

Gene: CDH23

Linked Data

• ClinVar Variation Id: 990951
• ClinVar RCV Id: RCV001279071 ; RCV001362308
• dbSNP Id: rs765697060
• ExAC: 10:73567281 G / A
• gnomAD v2: 10-73567281-G-A
• gnomAD v3: 10-71807524-G-A
• gnomAD v4: 10-71807524-G-A
• MyVariant Identifiers: chr10:g.73567281G>A (hg19) ; chr10:g.71807524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807524G>A , CM000672.2:g.71807524G>A	GRCh38
NC_000010.10:g.73567281G>A , CM000672.1:g.73567281G>A	GRCh37
NC_000010.9:g.73237287G>A	NCBI36
NG_008835.1:g.415578G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8317G>A MANE Select	ENSP00000224721.9:p.Glu2773Lys
ENST00000642965.1:c.2250G>A	ENSP00000495222.1:n.2250G>A
ENST00000647092.1:c.1914G>A	ENSP00000495176.1:n.1914G>A
ENST00000224721.10:c.8332G>A	ENSP00000224721.8:p.Glu2778Lys
ENST00000398788.4:c.1597G>A	ENSP00000381768.3:p.Glu533Lys
ENST00000475158.1:n.1853G>A
ENST00000619887.4:c.1597G>A	ENSP00000478374.1:p.Glu533Lys
ENST00000622827.4:c.8317G>A	ENSP00000483211.1:p.Glu2773Lys
NM_001171933.1:c.1597G>A	NP_001165404.1:p.Glu533Lys
NM_001171934.1:c.1597G>A	NP_001165405.1:p.Glu533Lys
NM_022124.5:c.8317G>A	NP_071407.4:p.Glu2773Lys
XM_006717940.2:c.8512G>A	XP_006718003.1:p.Glu2838Lys
XM_006717942.2:c.8446G>A	XP_006718005.1:p.Glu2816Lys
XM_011540039.1:c.8509G>A	XP_011538341.1:p.Glu2837Lys
XM_011540040.1:c.8506G>A	XP_011538342.1:p.Glu2836Lys
XM_011540041.1:c.8452G>A	XP_011538343.1:p.Glu2818Lys
XM_011540042.1:c.8422G>A	XP_011538344.1:p.Glu2808Lys
XM_011540043.1:c.8512G>A	XP_011538345.1:p.Glu2838Lys
XM_011540044.1:c.8377G>A	XP_011538346.1:p.Glu2793Lys
XM_011540045.1:c.8512G>A	XP_011538347.1:p.Glu2838Lys
XM_011540046.1:c.7972G>A	XP_011538348.1:p.Glu2658Lys
XM_011540047.1:c.7330G>A	XP_011538349.1:p.Glu2444Lys
XM_011540052.1:c.4840G>A	XP_011538354.1:p.Glu1614Lys
NM_022124.6:c.8317G>A MANE Select	NP_071407.4:p.Glu2773Lys