Canonical Allele Identifier: CA5546235

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2090692
• ClinVar RCV Id: RCV003005917
• dbSNP Id: rs760192024
• ExAC: 10:73558317 C / T
• gnomAD v2: 10-73558317-C-T
• gnomAD v4: 10-71798560-C-T
• MyVariant Identifiers: chr10:g.73558317C>T (hg19) ; chr10:g.71798560C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798560C>T , CM000672.2:g.71798560C>T	GRCh38
NC_000010.10:g.73558317C>T , CM000672.1:g.73558317C>T	GRCh37
NC_000010.9:g.73228323C>T	NCBI36
NG_008835.1:g.406614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7036C>T MANE Select	ENSP00000224721.9:p.Leu2346=
ENST00000642965.1:c.969C>T	ENSP00000495222.1:n.969C>T
ENST00000647092.1:c.633C>T	ENSP00000495176.1:n.633C>T
ENST00000224721.10:c.7051C>T	ENSP00000224721.8:p.Leu2351=
ENST00000398788.4:c.316C>T	ENSP00000381768.3:p.Leu106=
ENST00000475158.1:n.572C>T
ENST00000619887.4:c.316C>T	ENSP00000478374.1:p.Leu106=
ENST00000622827.4:c.7036C>T	ENSP00000483211.1:p.Leu2346=
NM_001171933.1:c.316C>T	NP_001165404.1:p.Leu106=
NM_001171934.1:c.316C>T	NP_001165405.1:p.Leu106=
NM_022124.5:c.7036C>T	NP_071407.4:p.Leu2346=
XM_006717940.2:c.7231C>T	XP_006718003.1:p.Leu2411=
XM_006717942.2:c.7165C>T	XP_006718005.1:p.Leu2389=
XM_011540039.1:c.7228C>T	XP_011538341.1:p.Leu2410=
XM_011540040.1:c.7225C>T	XP_011538342.1:p.Leu2409=
XM_011540041.1:c.7171C>T	XP_011538343.1:p.Leu2391=
XM_011540042.1:c.7141C>T	XP_011538344.1:p.Leu2381=
XM_011540043.1:c.7231C>T	XP_011538345.1:p.Leu2411=
XM_011540044.1:c.7096C>T	XP_011538346.1:p.Leu2366=
XM_011540045.1:c.7231C>T	XP_011538347.1:p.Leu2411=
XM_011540046.1:c.6691C>T	XP_011538348.1:p.Leu2231=
XM_011540047.1:c.6049C>T	XP_011538349.1:p.Leu2017=
XM_011540052.1:c.3559C>T	XP_011538354.1:p.Leu1187=
NM_022124.6:c.7036C>T MANE Select	NP_071407.4:p.Leu2346=