Canonical Allele Identifier: CA16605685

Gene: CDH23

Linked Data

• ClinVar Variation Id: 379601
• ClinVar RCV Id: RCV000421709 ; RCV001828406
• dbSNP Id: rs1057520662
• gnomAD v4: 10-71803076-G-T
• MyVariant Identifiers: chr10:g.73562833G>T (hg19) ; chr10:g.71803076G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71803076G>T , CM000672.2:g.71803076G>T	GRCh38
NC_000010.10:g.73562833G>T , CM000672.1:g.73562833G>T	GRCh37
NC_000010.9:g.73232839G>T	NCBI36
NG_008835.1:g.411130G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.7660+1G>T MANE Select	ENSP00000224721.9:n.7660+1G>T
ENST00000642965.1:c.1593+1G>T	ENSP00000495222.1:n.1593+1G>T
ENST00000647092.1:c.1257+1G>T	ENSP00000495176.1:n.1257+1G>T
ENST00000224721.10:c.7675+1G>T	ENSP00000224721.8:n.7675+1G>T
ENST00000398788.4:c.940+1G>T	ENSP00000381768.3:n.940+1G>T
ENST00000475158.1:n.1196+1G>T
ENST00000619887.4:c.940+1G>T	ENSP00000478374.1:n.940+1G>T
ENST00000622827.4:c.7660+1G>T	ENSP00000483211.1:n.7660+1G>T
NM_001171933.1:c.940+1G>T	NP_001165404.1:n.940+1G>T
NM_001171934.1:c.940+1G>T	NP_001165405.1:n.940+1G>T
NM_022124.5:c.7660+1G>T	NP_071407.4:n.7660+1G>T
XM_006717940.2:c.7855+1G>T	XP_006718003.1:n.7855+1G>T
XM_006717942.2:c.7789+1G>T	XP_006718005.1:n.7789+1G>T
XM_011540039.1:c.7852+1G>T	XP_011538341.1:n.7852+1G>T
XM_011540040.1:c.7849+1G>T	XP_011538342.1:n.7849+1G>T
XM_011540041.1:c.7795+1G>T	XP_011538343.1:n.7795+1G>T
XM_011540042.1:c.7765+1G>T	XP_011538344.1:n.7765+1G>T
XM_011540043.1:c.7855+1G>T	XP_011538345.1:n.7855+1G>T
XM_011540044.1:c.7720+1G>T	XP_011538346.1:n.7720+1G>T
XM_011540045.1:c.7855+1G>T	XP_011538347.1:n.7855+1G>T
XM_011540046.1:c.7315+1G>T	XP_011538348.1:n.7315+1G>T
XM_011540047.1:c.6673+1G>T	XP_011538349.1:n.6673+1G>T
XM_011540052.1:c.4183+1G>T	XP_011538354.1:n.4183+1G>T
NM_022124.6:c.7660+1G>T MANE Select	NP_071407.4:n.7660+1G>T