Canonical Allele Identifier: CA175535

Gene: CDH23

Linked Data

• ClinVar Variation Id: 162957
• ClinVar RCV Id: RCV000150331 ; RCV001067382 ; RCV001826807
• dbSNP Id: rs374156784
• ExAC: 10:73572631 G / A
• gnomAD v2: 10-73572631-G-A
• gnomAD v3: 10-71812874-G-A
• gnomAD v4: 10-71812874-G-A
• MyVariant Identifiers: chr10:g.73572631G>A (hg19) ; chr10:g.71812874G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71812874G>A , CM000672.2:g.71812874G>A	GRCh38
NC_000010.10:g.73572631G>A , CM000672.1:g.73572631G>A	GRCh37
NC_000010.9:g.73242637G>A	NCBI36
NG_008835.1:g.420928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.9617G>A MANE Select	ENSP00000224721.9:p.Arg3206His
ENST00000642965.1:c.3550G>A	ENSP00000495222.1:n.3550G>A
ENST00000647092.1:c.3214G>A	ENSP00000495176.1:n.3214G>A
ENST00000224721.10:c.9632G>A	ENSP00000224721.8:p.Arg3211His
ENST00000398788.4:c.2897G>A	ENSP00000381768.3:p.Arg966His
ENST00000475158.1:n.3153G>A
ENST00000619887.4:c.2897G>A	ENSP00000478374.1:p.Arg966His
ENST00000622827.4:c.9617G>A	ENSP00000483211.1:p.Arg3206His
NM_001171933.1:c.2897G>A	NP_001165404.1:p.Arg966His
NM_001171934.1:c.2897G>A	NP_001165405.1:p.Arg966His
NM_001171935.1:c.308G>A	NP_001165406.1:p.Arg103His
NM_001171936.1:c.308G>A	NP_001165407.1:p.Arg103His
NM_022124.5:c.9617G>A	NP_071407.4:p.Arg3206His
XM_006717940.2:c.9812G>A	XP_006718003.1:p.Arg3271His
XM_006717942.2:c.9746G>A	XP_006718005.1:p.Arg3249His
XM_011540039.1:c.9809G>A	XP_011538341.1:p.Arg3270His
XM_011540040.1:c.9806G>A	XP_011538342.1:p.Arg3269His
XM_011540041.1:c.9752G>A	XP_011538343.1:p.Arg3251His
XM_011540042.1:c.9722G>A	XP_011538344.1:p.Arg3241His
XM_011540043.1:c.9812G>A	XP_011538345.1:p.Arg3271His
XM_011540044.1:c.9677G>A	XP_011538346.1:p.Arg3226His
XM_011540045.1:c.9812G>A	XP_011538347.1:p.Arg3271His
XM_011540046.1:c.9272G>A	XP_011538348.1:p.Arg3091His
XM_011540047.1:c.8630G>A	XP_011538349.1:p.Arg2877His
XM_011540052.1:c.6140G>A	XP_011538354.1:p.Arg2047His
NM_022124.6:c.9617G>A MANE Select	NP_071407.4:p.Arg3206His