Canonical Allele Identifier: CA175522

Gene: CDH23

Linked Data

• ClinVar Variation Id: 162946
• ClinVar RCV Id: RCV000150324 ; RCV000928676 ; RCV001108165 ; RCV001108166 ; RCV002514890 ; RCV003389457 ; RCV004544350
• dbSNP Id: rs556148352
• ExAC: 10:73567145 G / A
• gnomAD v2: 10-73567145-G-A
• gnomAD v3: 10-71807388-G-A
• gnomAD v4: 10-71807388-G-A
• MyVariant Identifiers: chr10:g.73567145G>A (hg19) ; chr10:g.71807388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807388G>A , CM000672.2:g.71807388G>A	GRCh38
NC_000010.10:g.73567145G>A , CM000672.1:g.73567145G>A	GRCh37
NC_000010.9:g.73237151G>A	NCBI36
NG_008835.1:g.415442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8290G>A MANE Select	ENSP00000224721.9:p.Val2764Met
ENST00000642965.1:c.2223G>A	ENSP00000495222.1:n.2223G>A
ENST00000647092.1:c.1887G>A	ENSP00000495176.1:n.1887G>A
ENST00000224721.10:c.8305G>A	ENSP00000224721.8:p.Val2769Met
ENST00000398788.4:c.1570G>A	ENSP00000381768.3:p.Val524Met
ENST00000475158.1:n.1826G>A
ENST00000619887.4:c.1570G>A	ENSP00000478374.1:p.Val524Met
ENST00000622827.4:c.8290G>A	ENSP00000483211.1:p.Val2764Met
NM_001171933.1:c.1570G>A	NP_001165404.1:p.Val524Met
NM_001171934.1:c.1570G>A	NP_001165405.1:p.Val524Met
NM_022124.5:c.8290G>A	NP_071407.4:p.Val2764Met
XM_006717940.2:c.8485G>A	XP_006718003.1:p.Val2829Met
XM_006717942.2:c.8419G>A	XP_006718005.1:p.Val2807Met
XM_011540039.1:c.8482G>A	XP_011538341.1:p.Val2828Met
XM_011540040.1:c.8479G>A	XP_011538342.1:p.Val2827Met
XM_011540041.1:c.8425G>A	XP_011538343.1:p.Val2809Met
XM_011540042.1:c.8395G>A	XP_011538344.1:p.Val2799Met
XM_011540043.1:c.8485G>A	XP_011538345.1:p.Val2829Met
XM_011540044.1:c.8350G>A	XP_011538346.1:p.Val2784Met
XM_011540045.1:c.8485G>A	XP_011538347.1:p.Val2829Met
XM_011540046.1:c.7945G>A	XP_011538348.1:p.Val2649Met
XM_011540047.1:c.7303G>A	XP_011538349.1:p.Val2435Met
XM_011540052.1:c.4813G>A	XP_011538354.1:p.Val1605Met
NM_022124.6:c.8290G>A MANE Select	NP_071407.4:p.Val2764Met