Canonical Allele Identifier: CA5546646

Gene: CDH23

Linked Data

• ClinVar Variation Id: 725861
• ClinVar RCV Id: RCV000899992 ; RCV001276052 ; RCV003910728
• dbSNP Id: rs752125151
• ExAC: 10:73567370 C / T
• gnomAD v2: 10-73567370-C-T
• gnomAD v3: 10-71807613-C-T
• gnomAD v4: 10-71807613-C-T
• COSMIC: COSM127598
• MyVariant Identifiers: chr10:g.73567370C>T (hg19) ; chr10:g.71807613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807613C>T , CM000672.2:g.71807613C>T	GRCh38
NC_000010.10:g.73567370C>T , CM000672.1:g.73567370C>T	GRCh37
NC_000010.9:g.73237376C>T	NCBI36
NG_008835.1:g.415667C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8406C>T MANE Select	ENSP00000224721.9:p.Ile2802=
ENST00000642965.1:c.2339C>T	ENSP00000495222.1:n.2339C>T
ENST00000647092.1:c.2003C>T	ENSP00000495176.1:n.2003C>T
ENST00000224721.10:c.8421C>T	ENSP00000224721.8:p.Ile2807=
ENST00000398788.4:c.1686C>T	ENSP00000381768.3:p.Ile562=
ENST00000475158.1:n.1942C>T
ENST00000619887.4:c.1686C>T	ENSP00000478374.1:p.Ile562=
ENST00000622827.4:c.8406C>T	ENSP00000483211.1:p.Ile2802=
NM_001171933.1:c.1686C>T	NP_001165404.1:p.Ile562=
NM_001171934.1:c.1686C>T	NP_001165405.1:p.Ile562=
NM_022124.5:c.8406C>T	NP_071407.4:p.Ile2802=
XM_006717940.2:c.8601C>T	XP_006718003.1:p.Ile2867=
XM_006717942.2:c.8535C>T	XP_006718005.1:p.Ile2845=
XM_011540039.1:c.8598C>T	XP_011538341.1:p.Ile2866=
XM_011540040.1:c.8595C>T	XP_011538342.1:p.Ile2865=
XM_011540041.1:c.8541C>T	XP_011538343.1:p.Ile2847=
XM_011540042.1:c.8511C>T	XP_011538344.1:p.Ile2837=
XM_011540043.1:c.8601C>T	XP_011538345.1:p.Ile2867=
XM_011540044.1:c.8466C>T	XP_011538346.1:p.Ile2822=
XM_011540045.1:c.8601C>T	XP_011538347.1:p.Ile2867=
XM_011540046.1:c.8061C>T	XP_011538348.1:p.Ile2687=
XM_011540047.1:c.7419C>T	XP_011538349.1:p.Ile2473=
XM_011540052.1:c.4929C>T	XP_011538354.1:p.Ile1643=
NM_022124.6:c.8406C>T MANE Select	NP_071407.4:p.Ile2802=