Canonical Allele Identifier: CA5546622

Gene: CDH23

Linked Data

• ClinVar Variation Id: 766334
• ClinVar RCV Id: RCV000944843 ; RCV001276050
• dbSNP Id: rs749582906
• ExAC: 10:73567274 C / T
• gnomAD v2: 10-73567274-C-T
• gnomAD v3: 10-71807517-C-T
• gnomAD v4: 10-71807517-C-T
• MyVariant Identifiers: chr10:g.73567274C>T (hg19) ; chr10:g.71807517C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807517C>T , CM000672.2:g.71807517C>T	GRCh38
NC_000010.10:g.73567274C>T , CM000672.1:g.73567274C>T	GRCh37
NC_000010.9:g.73237280C>T	NCBI36
NG_008835.1:g.415571C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8310C>T MANE Select	ENSP00000224721.9:p.Ala2770=
ENST00000642965.1:c.2243C>T	ENSP00000495222.1:n.2243C>T
ENST00000647092.1:c.1907C>T	ENSP00000495176.1:n.1907C>T
ENST00000224721.10:c.8325C>T	ENSP00000224721.8:p.Ala2775=
ENST00000398788.4:c.1590C>T	ENSP00000381768.3:p.Ala530=
ENST00000475158.1:n.1846C>T
ENST00000619887.4:c.1590C>T	ENSP00000478374.1:p.Ala530=
ENST00000622827.4:c.8310C>T	ENSP00000483211.1:p.Ala2770=
NM_001171933.1:c.1590C>T	NP_001165404.1:p.Ala530=
NM_001171934.1:c.1590C>T	NP_001165405.1:p.Ala530=
NM_022124.5:c.8310C>T	NP_071407.4:p.Ala2770=
XM_006717940.2:c.8505C>T	XP_006718003.1:p.Ala2835=
XM_006717942.2:c.8439C>T	XP_006718005.1:p.Ala2813=
XM_011540039.1:c.8502C>T	XP_011538341.1:p.Ala2834=
XM_011540040.1:c.8499C>T	XP_011538342.1:p.Ala2833=
XM_011540041.1:c.8445C>T	XP_011538343.1:p.Ala2815=
XM_011540042.1:c.8415C>T	XP_011538344.1:p.Ala2805=
XM_011540043.1:c.8505C>T	XP_011538345.1:p.Ala2835=
XM_011540044.1:c.8370C>T	XP_011538346.1:p.Ala2790=
XM_011540045.1:c.8505C>T	XP_011538347.1:p.Ala2835=
XM_011540046.1:c.7965C>T	XP_011538348.1:p.Ala2655=
XM_011540047.1:c.7323C>T	XP_011538349.1:p.Ala2441=
XM_011540052.1:c.4833C>T	XP_011538354.1:p.Ala1611=
NM_022124.6:c.8310C>T MANE Select	NP_071407.4:p.Ala2770=