Canonical Allele Identifier: CA5546297

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1139809
• ClinVar RCV Id: RCV001476646 ; RCV001826308
• dbSNP Id: rs751865337
• ExAC: 10:73559269 G / A
• gnomAD v2: 10-73559269-G-A
• gnomAD v3: 10-71799512-G-A
• gnomAD v4: 10-71799512-G-A
• MyVariant Identifiers: chr10:g.73559269G>A (hg19) ; chr10:g.71799512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799512G>A , CM000672.2:g.71799512G>A	GRCh38
NC_000010.10:g.73559269G>A , CM000672.1:g.73559269G>A	GRCh37
NC_000010.9:g.73229275G>A	NCBI36
NG_008835.1:g.407566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7245G>A MANE Select	ENSP00000224721.9:p.Val2415=
ENST00000642965.1:c.1178G>A	ENSP00000495222.1:n.1178G>A
ENST00000647092.1:c.842G>A	ENSP00000495176.1:n.842G>A
ENST00000224721.10:c.7260G>A	ENSP00000224721.8:p.Val2420=
ENST00000398788.4:c.525G>A	ENSP00000381768.3:p.Val175=
ENST00000475158.1:n.781G>A
ENST00000619887.4:c.525G>A	ENSP00000478374.1:p.Val175=
ENST00000622827.4:c.7245G>A	ENSP00000483211.1:p.Val2415=
NM_001171933.1:c.525G>A	NP_001165404.1:p.Val175=
NM_001171934.1:c.525G>A	NP_001165405.1:p.Val175=
NM_022124.5:c.7245G>A	NP_071407.4:p.Val2415=
XM_006717940.2:c.7440G>A	XP_006718003.1:p.Val2480=
XM_006717942.2:c.7374G>A	XP_006718005.1:p.Val2458=
XM_011540039.1:c.7437G>A	XP_011538341.1:p.Val2479=
XM_011540040.1:c.7434G>A	XP_011538342.1:p.Val2478=
XM_011540041.1:c.7380G>A	XP_011538343.1:p.Val2460=
XM_011540042.1:c.7350G>A	XP_011538344.1:p.Val2450=
XM_011540043.1:c.7440G>A	XP_011538345.1:p.Val2480=
XM_011540044.1:c.7305G>A	XP_011538346.1:p.Val2435=
XM_011540045.1:c.7440G>A	XP_011538347.1:p.Val2480=
XM_011540046.1:c.6900G>A	XP_011538348.1:p.Val2300=
XM_011540047.1:c.6258G>A	XP_011538349.1:p.Val2086=
XM_011540052.1:c.3768G>A	XP_011538354.1:p.Val1256=
NM_022124.6:c.7245G>A MANE Select	NP_071407.4:p.Val2415=