Canonical Allele Identifier: CA5546888

Gene: CDH23

Linked Data

• ClinVar Variation Id: 226438
• ClinVar RCV Id: RCV000214890 ; RCV001103164 ; RCV001103165
• dbSNP Id: rs375907609
• ExAC: 10:73571121 C / T
• gnomAD v2: 10-73571121-C-T
• gnomAD v3: 10-71811364-C-T
• gnomAD v4: 10-71811364-C-T
• MyVariant Identifiers: chr10:g.73571121C>T (hg19) ; chr10:g.71811364C>T (hg38)
• PubMed: PMID:20301442 ; PMID:21569298

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71811364C>T , CM000672.2:g.71811364C>T	GRCh38
NC_000010.10:g.73571121C>T , CM000672.1:g.73571121C>T	GRCh37
NC_000010.9:g.73241127C>T	NCBI36
NG_008835.1:g.419418C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.9127C>T MANE Select	ENSP00000224721.9:p.Arg3043Trp
ENST00000642965.1:c.3060C>T	ENSP00000495222.1:n.3060C>T
ENST00000647092.1:c.2724C>T	ENSP00000495176.1:n.2724C>T
ENST00000224721.10:c.9142C>T	ENSP00000224721.8:p.Arg3048Trp
ENST00000398788.4:c.2407C>T	ENSP00000381768.3:p.Arg803Trp
ENST00000475158.1:n.2663C>T
ENST00000619887.4:c.2407C>T	ENSP00000478374.1:p.Arg803Trp
ENST00000622827.4:c.9127C>T	ENSP00000483211.1:p.Arg3043Trp
NM_001171933.1:c.2407C>T	NP_001165404.1:p.Arg803Trp
NM_001171934.1:c.2407C>T	NP_001165405.1:p.Arg803Trp
NM_022124.5:c.9127C>T	NP_071407.4:p.Arg3043Trp
XM_006717940.2:c.9322C>T	XP_006718003.1:p.Arg3108Trp
XM_006717942.2:c.9256C>T	XP_006718005.1:p.Arg3086Trp
XM_011540039.1:c.9319C>T	XP_011538341.1:p.Arg3107Trp
XM_011540040.1:c.9316C>T	XP_011538342.1:p.Arg3106Trp
XM_011540041.1:c.9262C>T	XP_011538343.1:p.Arg3088Trp
XM_011540042.1:c.9232C>T	XP_011538344.1:p.Arg3078Trp
XM_011540043.1:c.9322C>T	XP_011538345.1:p.Arg3108Trp
XM_011540044.1:c.9187C>T	XP_011538346.1:p.Arg3063Trp
XM_011540045.1:c.9322C>T	XP_011538347.1:p.Arg3108Trp
XM_011540046.1:c.8782C>T	XP_011538348.1:p.Arg2928Trp
XM_011540047.1:c.8140C>T	XP_011538349.1:p.Arg2714Trp
XM_011540052.1:c.5650C>T	XP_011538354.1:p.Arg1884Trp
NM_022124.6:c.9127C>T MANE Select	NP_071407.4:p.Arg3043Trp