Canonical Allele Identifier: CA2609565618

Gene: CDH23

Linked Data

• ClinVar Variation Id: 3018739
• ClinVar RCV Id: RCV003879386
• gnomAD v4: 10-71645995-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71645995A>G , CM000672.2:g.71645995A>G	GRCh38
NC_000010.10:g.73405752A>G , CM000672.1:g.73405752A>G	GRCh37
NC_000010.9:g.73075758A>G	NCBI36
NG_008835.1:g.254049A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.1290+15A>G MANE Select	ENSP00000224721.9:n.1290+15A>G
ENST00000398809.9:c.1290+15A>G	ENSP00000381789.5:n.1290+15A>G
ENST00000442677.4:c.1290+15A>G	ENSP00000388894.3:n.1290+15A>G
ENST00000466757.8:c.721+15A>G
ENST00000643732.1:n.1126+15A>G
ENST00000646131.1:c.954+15A>G	ENSP00000495098.1:n.954+15A>G
ENST00000224721.10:c.1305+15A>G	ENSP00000224721.8:n.1305+15A>G
ENST00000299366.11:c.1290+15A>G	ENSP00000299366.8:n.1290+15A>G
ENST00000398809.8:c.1290+15A>G	ENSP00000381789.5:n.1290+15A>G
ENST00000398842.7:c.1035+15A>G	ENSP00000381822.4:n.1035+15A>G
ENST00000442677.3:c.65+15A>G
ENST00000461841.7:c.1290+15A>G	ENSP00000473454.2:n.1290+15A>G
ENST00000466757.7:c.721+15A>G
ENST00000470494.5:c.259+15A>G
ENST00000616684.4:c.1290+15A>G	ENSP00000482036.2:n.1290+15A>G
ENST00000622827.4:c.1290+15A>G	ENSP00000483211.1:n.1290+15A>G
NM_001171930.1:c.1290+15A>G	NP_001165401.1:n.1290+15A>G
NM_001171931.1:c.1290+15A>G	NP_001165402.1:n.1290+15A>G
NM_022124.5:c.1290+15A>G	NP_071407.4:n.1290+15A>G
NM_052836.3:c.1290+15A>G	NP_443068.1:n.1290+15A>G
XM_006717940.2:c.1485+15A>G	XP_006718003.1:n.1485+15A>G
XM_006717942.2:c.1419+15A>G	XP_006718005.1:n.1419+15A>G
XM_011540039.1:c.1485+15A>G	XP_011538341.1:n.1485+15A>G
XM_011540040.1:c.1479+15A>G	XP_011538342.1:n.1479+15A>G
XM_011540041.1:c.1425+15A>G	XP_011538343.1:n.1425+15A>G
XM_011540042.1:c.1485+15A>G	XP_011538344.1:n.1485+15A>G
XM_011540043.1:c.1485+15A>G	XP_011538345.1:n.1485+15A>G
XM_011540044.1:c.1350+15A>G	XP_011538346.1:n.1350+15A>G
XM_011540045.1:c.1485+15A>G	XP_011538347.1:n.1485+15A>G
XM_011540046.1:c.945+15A>G	XP_011538348.1:n.945+15A>G
XM_011540047.1:c.303+15A>G	XP_011538349.1:n.303+15A>G
XM_011540048.1:c.1485+15A>G	XP_011538350.1:n.1485+15A>G
XM_011540049.1:c.1485+15A>G	XP_011538351.1:n.1485+15A>G
XM_011540050.1:c.1485+15A>G	XP_011538352.1:n.1485+15A>G
XM_011540051.1:c.1485+15A>G	XP_011538353.1:n.1485+15A>G
XM_011540053.1:c.1485+15A>G	XP_011538355.1:n.1485+15A>G
XM_011540054.1:c.1425+15A>G	XP_011538356.1:n.1425+15A>G
XR_945796.1:n.1728+15A>G
NM_001171930.2:c.1290+15A>G	NP_001165401.1:n.1290+15A>G
NM_001171931.2:c.1290+15A>G	NP_001165402.1:n.1290+15A>G
NM_022124.6:c.1290+15A>G MANE Select	NP_071407.4:n.1290+15A>G
NM_052836.4:c.1290+15A>G	NP_443068.1:n.1290+15A>G