Canonical Allele Identifier: CA175506

Gene: CDH23

Linked Data

• ClinVar Variation Id: 162933
• ClinVar RCV Id: RCV000150310 ; RCV000303590 ; RCV000347943 ; RCV000910899 ; RCV001274905 ; RCV004528874
• dbSNP Id: rs369946986
• ExAC: 10:73556853 G / A
• gnomAD v2: 10-73556853-G-A
• gnomAD v3: 10-71797096-G-A
• gnomAD v4: 10-71797096-G-A
• MyVariant Identifiers: chr10:g.73556853G>A (hg19) ; chr10:g.71797096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71797096G>A , CM000672.2:g.71797096G>A	GRCh38
NC_000010.10:g.73556853G>A , CM000672.1:g.73556853G>A	GRCh37
NC_000010.9:g.73226859G>A	NCBI36
NG_008835.1:g.405150G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6713-8G>A MANE Select	ENSP00000224721.9:n.6713-8G>A
ENST00000642965.1:c.646-8G>A	ENSP00000495222.1:n.646-8G>A
ENST00000647092.1:c.310-8G>A	ENSP00000495176.1:n.310-8G>A
ENST00000224721.10:c.6728-8G>A	ENSP00000224721.8:n.6728-8G>A
ENST00000398788.4:c.-8-8G>A	ENSP00000381768.3:n.-8-8G>A
ENST00000475158.1:n.241G>A
ENST00000619887.4:c.-8-8G>A	ENSP00000478374.1:n.-8-8G>A
ENST00000622827.4:c.6713-8G>A	ENSP00000483211.1:n.6713-8G>A
NM_001171933.1:c.-8-8G>A	NP_001165404.1:n.-8-8G>A
NM_001171934.1:c.-8-8G>A	NP_001165405.1:n.-8-8G>A
NM_022124.5:c.6713-8G>A	NP_071407.4:n.6713-8G>A
XM_006717940.2:c.6908-8G>A	XP_006718003.1:n.6908-8G>A
XM_006717942.2:c.6842-8G>A	XP_006718005.1:n.6842-8G>A
XM_011540039.1:c.6905-8G>A	XP_011538341.1:n.6905-8G>A
XM_011540040.1:c.6902-8G>A	XP_011538342.1:n.6902-8G>A
XM_011540041.1:c.6848-8G>A	XP_011538343.1:n.6848-8G>A
XM_011540042.1:c.6818-8G>A	XP_011538344.1:n.6818-8G>A
XM_011540043.1:c.6908-8G>A	XP_011538345.1:n.6908-8G>A
XM_011540044.1:c.6773-8G>A	XP_011538346.1:n.6773-8G>A
XM_011540045.1:c.6908-8G>A	XP_011538347.1:n.6908-8G>A
XM_011540046.1:c.6368-8G>A	XP_011538348.1:n.6368-8G>A
XM_011540047.1:c.5726-8G>A	XP_011538349.1:n.5726-8G>A
XM_011540050.1:c.*8-8G>A	XP_011538352.1:n.*8-8G>A
XM_011540052.1:c.3236-8G>A	XP_011538354.1:n.3236-8G>A
NM_022124.6:c.6713-8G>A MANE Select	NP_071407.4:n.6713-8G>A