Canonical Allele Identifier: CA5546339

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2014579
• ClinVar RCV Id: RCV002861566
• dbSNP Id: rs764694909
• ExAC: 10:73560434 G / A
• gnomAD v2: 10-73560434-G-A
• gnomAD v3: 10-71800677-G-A
• gnomAD v4: 10-71800677-G-A
• MyVariant Identifiers: chr10:g.73560434G>A (hg19) ; chr10:g.71800677G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800677G>A , CM000672.2:g.71800677G>A	GRCh38
NC_000010.10:g.73560434G>A , CM000672.1:g.73560434G>A	GRCh37
NC_000010.9:g.73230440G>A	NCBI36
NG_008835.1:g.408731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7404G>A MANE Select	ENSP00000224721.9:p.Lys2468=
ENST00000642965.1:c.1337G>A	ENSP00000495222.1:n.1337G>A
ENST00000647092.1:c.1001G>A	ENSP00000495176.1:n.1001G>A
ENST00000224721.10:c.7419G>A	ENSP00000224721.8:p.Lys2473=
ENST00000398788.4:c.684G>A	ENSP00000381768.3:p.Lys228=
ENST00000475158.1:n.940G>A
ENST00000619887.4:c.684G>A	ENSP00000478374.1:p.Lys228=
ENST00000622827.4:c.7404G>A	ENSP00000483211.1:p.Lys2468=
NM_001171933.1:c.684G>A	NP_001165404.1:p.Lys228=
NM_001171934.1:c.684G>A	NP_001165405.1:p.Lys228=
NM_022124.5:c.7404G>A	NP_071407.4:p.Lys2468=
XM_006717940.2:c.7599G>A	XP_006718003.1:p.Lys2533=
XM_006717942.2:c.7533G>A	XP_006718005.1:p.Lys2511=
XM_011540039.1:c.7596G>A	XP_011538341.1:p.Lys2532=
XM_011540040.1:c.7593G>A	XP_011538342.1:p.Lys2531=
XM_011540041.1:c.7539G>A	XP_011538343.1:p.Lys2513=
XM_011540042.1:c.7509G>A	XP_011538344.1:p.Lys2503=
XM_011540043.1:c.7599G>A	XP_011538345.1:p.Lys2533=
XM_011540044.1:c.7464G>A	XP_011538346.1:p.Lys2488=
XM_011540045.1:c.7599G>A	XP_011538347.1:p.Lys2533=
XM_011540046.1:c.7059G>A	XP_011538348.1:p.Lys2353=
XM_011540047.1:c.6417G>A	XP_011538349.1:p.Lys2139=
XM_011540052.1:c.3927G>A	XP_011538354.1:p.Lys1309=
NM_022124.6:c.7404G>A MANE Select	NP_071407.4:p.Lys2468=