Canonical Allele Identifier: CA246988

Gene: CDH23

Linked Data

• ClinVar Variation Id: 198370
• ClinVar RCV Id: RCV000179680 ; RCV000624879 ; RCV000763668 ; RCV001276932 ; RCV001331235 ; RCV002509282
• dbSNP Id: rs140884994
• ExAC: 10:73572538 G / A
• gnomAD v2: 10-73572538-G-A
• gnomAD v3: 10-71812781-G-A
• gnomAD v4: 10-71812781-G-A
• MyVariant Identifiers: chr10:g.73572538G>A (hg19) ; chr10:g.71812781G>A (hg38)
• PubMed: PMID:11090341 ; PMID:11138009 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71812781G>A , CM000672.2:g.71812781G>A	GRCh38
NC_000010.10:g.73572538G>A , CM000672.1:g.73572538G>A	GRCh37
NC_000010.9:g.73242544G>A	NCBI36
NG_008835.1:g.420835G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.9524G>A MANE Select	ENSP00000224721.9:p.Arg3175His
ENST00000642965.1:c.3457G>A	ENSP00000495222.1:n.3457G>A
ENST00000647092.1:c.3121G>A	ENSP00000495176.1:n.3121G>A
ENST00000224721.10:c.9539G>A	ENSP00000224721.8:p.Arg3180His
ENST00000398788.4:c.2804G>A	ENSP00000381768.3:p.Arg935His
ENST00000475158.1:n.3060G>A
ENST00000619887.4:c.2804G>A	ENSP00000478374.1:p.Arg935His
ENST00000622827.4:c.9524G>A	ENSP00000483211.1:p.Arg3175His
NM_001171933.1:c.2804G>A	NP_001165404.1:p.Arg935His
NM_001171934.1:c.2804G>A	NP_001165405.1:p.Arg935His
NM_001171935.1:c.215G>A	NP_001165406.1:p.Arg72His
NM_001171936.1:c.215G>A	NP_001165407.1:p.Arg72His
NM_022124.5:c.9524G>A	NP_071407.4:p.Arg3175His
XM_006717940.2:c.9719G>A	XP_006718003.1:p.Arg3240His
XM_006717942.2:c.9653G>A	XP_006718005.1:p.Arg3218His
XM_011540039.1:c.9716G>A	XP_011538341.1:p.Arg3239His
XM_011540040.1:c.9713G>A	XP_011538342.1:p.Arg3238His
XM_011540041.1:c.9659G>A	XP_011538343.1:p.Arg3220His
XM_011540042.1:c.9629G>A	XP_011538344.1:p.Arg3210His
XM_011540043.1:c.9719G>A	XP_011538345.1:p.Arg3240His
XM_011540044.1:c.9584G>A	XP_011538346.1:p.Arg3195His
XM_011540045.1:c.9719G>A	XP_011538347.1:p.Arg3240His
XM_011540046.1:c.9179G>A	XP_011538348.1:p.Arg3060His
XM_011540047.1:c.8537G>A	XP_011538349.1:p.Arg2846His
XM_011540052.1:c.6047G>A	XP_011538354.1:p.Arg2016His
NM_022124.6:c.9524G>A MANE Select	NP_071407.4:p.Arg3175His