Canonical Allele Identifier: CA470282532

Gene: CDH23

Linked Data

• ClinVar Variation Id: 990954
• ClinVar RCV Id: RCV001279074 ; RCV001871556
• dbSNP Id: rs1235419354
• gnomAD v2: 10-73567427-C-T
• gnomAD v4: 10-71807670-C-T
• MyVariant Identifiers: chr10:g.73567427C>T (hg19) ; chr10:g.71807670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807670C>T , CM000672.2:g.71807670C>T	GRCh38
NC_000010.10:g.73567427C>T , CM000672.1:g.73567427C>T	GRCh37
NC_000010.9:g.73237433C>T	NCBI36
NG_008835.1:g.415724C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8463C>T MANE Select	ENSP00000224721.9:p.Leu2821=
ENST00000642965.1:c.2396C>T	ENSP00000495222.1:n.2396C>T
ENST00000647092.1:c.2060C>T	ENSP00000495176.1:n.2060C>T
ENST00000224721.10:c.8478C>T	ENSP00000224721.8:p.Leu2826=
ENST00000398788.4:c.1743C>T	ENSP00000381768.3:p.Leu581=
ENST00000475158.1:n.1999C>T
ENST00000619887.4:c.1743C>T	ENSP00000478374.1:p.Leu581=
ENST00000622827.4:c.8463C>T	ENSP00000483211.1:p.Leu2821=
NM_001171933.1:c.1743C>T	NP_001165404.1:p.Leu581=
NM_001171934.1:c.1743C>T	NP_001165405.1:p.Leu581=
NM_022124.5:c.8463C>T	NP_071407.4:p.Leu2821=
XM_006717940.2:c.8658C>T	XP_006718003.1:p.Leu2886=
XM_006717942.2:c.8592C>T	XP_006718005.1:p.Leu2864=
XM_011540039.1:c.8655C>T	XP_011538341.1:p.Leu2885=
XM_011540040.1:c.8652C>T	XP_011538342.1:p.Leu2884=
XM_011540041.1:c.8598C>T	XP_011538343.1:p.Leu2866=
XM_011540042.1:c.8568C>T	XP_011538344.1:p.Leu2856=
XM_011540043.1:c.8658C>T	XP_011538345.1:p.Leu2886=
XM_011540044.1:c.8523C>T	XP_011538346.1:p.Leu2841=
XM_011540045.1:c.8658C>T	XP_011538347.1:p.Leu2886=
XM_011540046.1:c.8118C>T	XP_011538348.1:p.Leu2706=
XM_011540047.1:c.7476C>T	XP_011538349.1:p.Leu2492=
XM_011540052.1:c.4986C>T	XP_011538354.1:p.Leu1662=
NM_022124.6:c.8463C>T MANE Select	NP_071407.4:p.Leu2821=