Canonical Allele Identifier: CA470062235

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2015713
• ClinVar RCV Id: RCV002843537
• MyVariant Identifiers: chr10:g.73560401C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71800644C>T , CM000672.2:g.71800644C>T	GRCh38
NC_000010.10:g.73560401C>T , CM000672.1:g.73560401C>T	GRCh37
NC_000010.9:g.73230407C>T	NCBI36
NG_008835.1:g.408698C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7371C>T MANE Select	ENSP00000224721.9:p.Ile2457=
ENST00000642965.1:c.1304C>T	ENSP00000495222.1:n.1304C>T
ENST00000647092.1:c.968C>T	ENSP00000495176.1:n.968C>T
ENST00000224721.10:c.7386C>T	ENSP00000224721.8:p.Ile2462=
ENST00000398788.4:c.651C>T	ENSP00000381768.3:p.Ile217=
ENST00000475158.1:n.907C>T
ENST00000619887.4:c.651C>T	ENSP00000478374.1:p.Ile217=
ENST00000622827.4:c.7371C>T	ENSP00000483211.1:p.Ile2457=
NM_001171933.1:c.651C>T	NP_001165404.1:p.Ile217=
NM_001171934.1:c.651C>T	NP_001165405.1:p.Ile217=
NM_022124.5:c.7371C>T	NP_071407.4:p.Ile2457=
XM_006717940.2:c.7566C>T	XP_006718003.1:p.Ile2522=
XM_006717942.2:c.7500C>T	XP_006718005.1:p.Ile2500=
XM_011540039.1:c.7563C>T	XP_011538341.1:p.Ile2521=
XM_011540040.1:c.7560C>T	XP_011538342.1:p.Ile2520=
XM_011540041.1:c.7506C>T	XP_011538343.1:p.Ile2502=
XM_011540042.1:c.7476C>T	XP_011538344.1:p.Ile2492=
XM_011540043.1:c.7566C>T	XP_011538345.1:p.Ile2522=
XM_011540044.1:c.7431C>T	XP_011538346.1:p.Ile2477=
XM_011540045.1:c.7566C>T	XP_011538347.1:p.Ile2522=
XM_011540046.1:c.7026C>T	XP_011538348.1:p.Ile2342=
XM_011540047.1:c.6384C>T	XP_011538349.1:p.Ile2128=
XM_011540052.1:c.3894C>T	XP_011538354.1:p.Ile1298=
NM_022124.6:c.7371C>T MANE Select	NP_071407.4:p.Ile2457=