Canonical Allele Identifier: CA470282066

Gene: CDH23

Linked Data

• ClinVar Variation Id: 990293
• ClinVar RCV Id: RCV001278284 ; RCV001442008
• dbSNP Id: rs1841497737
• MyVariant Identifiers: chr10:g.73559287C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799530C>A , CM000672.2:g.71799530C>A	GRCh38
NC_000010.10:g.73559287C>A , CM000672.1:g.73559287C>A	GRCh37
NC_000010.9:g.73229293C>A	NCBI36
NG_008835.1:g.407584C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7263C>A MANE Select	ENSP00000224721.9:p.Ile2421=
ENST00000642965.1:c.1196C>A	ENSP00000495222.1:n.1196C>A
ENST00000647092.1:c.860C>A	ENSP00000495176.1:n.860C>A
ENST00000224721.10:c.7278C>A	ENSP00000224721.8:p.Ile2426=
ENST00000398788.4:c.543C>A	ENSP00000381768.3:p.Ile181=
ENST00000475158.1:n.799C>A
ENST00000619887.4:c.543C>A	ENSP00000478374.1:p.Ile181=
ENST00000622827.4:c.7263C>A	ENSP00000483211.1:p.Ile2421=
NM_001171933.1:c.543C>A	NP_001165404.1:p.Ile181=
NM_001171934.1:c.543C>A	NP_001165405.1:p.Ile181=
NM_022124.5:c.7263C>A	NP_071407.4:p.Ile2421=
XM_006717940.2:c.7458C>A	XP_006718003.1:p.Ile2486=
XM_006717942.2:c.7392C>A	XP_006718005.1:p.Ile2464=
XM_011540039.1:c.7455C>A	XP_011538341.1:p.Ile2485=
XM_011540040.1:c.7452C>A	XP_011538342.1:p.Ile2484=
XM_011540041.1:c.7398C>A	XP_011538343.1:p.Ile2466=
XM_011540042.1:c.7368C>A	XP_011538344.1:p.Ile2456=
XM_011540043.1:c.7458C>A	XP_011538345.1:p.Ile2486=
XM_011540044.1:c.7323C>A	XP_011538346.1:p.Ile2441=
XM_011540045.1:c.7458C>A	XP_011538347.1:p.Ile2486=
XM_011540046.1:c.6918C>A	XP_011538348.1:p.Ile2306=
XM_011540047.1:c.6276C>A	XP_011538349.1:p.Ile2092=
XM_011540052.1:c.3786C>A	XP_011538354.1:p.Ile1262=
NM_022124.6:c.7263C>A MANE Select	NP_071407.4:p.Ile2421=