Canonical Allele Identifier: CA16605678
Gene: CDH23 HGNC NCBI
CDH23-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379600
ClinVar RCV Id: RCV000438952
dbSNP Id: rs1057520661

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71510225G>C , CM000672.2:g.71510225G>C GRCh38
NC_000010.10:g.73269982G>C , CM000672.1:g.73269982G>C GRCh37
NC_000010.9:g.72939988G>C NCBI36
NG_008835.1:g.118279G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.288+1G>C (CDH23) MANE Select ENSP00000224721.9:n.288+1G>C
ENST00000398809.9:c.288+1G>C (CDH23) ENSP00000381789.5:n.288+1G>C
ENST00000442677.4:c.288+1G>C (CDH23) ENSP00000388894.3:n.288+1G>C
ENST00000644511.1:c.273+1G>C (CDH23) ENSP00000495691.1:n.273+1G>C
ENST00000224721.10:c.288+1G>C (CDH23) ENSP00000224721.8:n.288+1G>C
ENST00000299366.11:c.288+1G>C (CDH23) ENSP00000299366.8:n.288+1G>C
ENST00000398809.8:c.288+1G>C (CDH23) ENSP00000381789.5:n.288+1G>C
ENST00000398842.7:c.111+1G>C (CDH23) ENSP00000381822.4:n.111+1G>C
ENST00000461841.7:c.288+1G>C (CDH23) ENSP00000473454.2:n.288+1G>C
ENST00000616684.4:c.288+1G>C (CDH23) ENSP00000482036.2:n.288+1G>C
ENST00000622827.4:c.288+1G>C (CDH23) ENSP00000483211.1:n.288+1G>C
NM_001171930.1:c.288+1G>C (CDH23) NP_001165401.1:n.288+1G>C
NM_001171931.1:c.288+1G>C (CDH23) NP_001165402.1:n.288+1G>C
NM_001171932.1:c.288+1G>C (CDH23) NP_001165403.1:n.288+1G>C
NM_022124.5:c.288+1G>C (CDH23) NP_071407.4:n.288+1G>C
NM_052836.3:c.288+1G>C (CDH23) NP_443068.1:n.288+1G>C
NR_120672.1:n.144-215C>G (CDH23-AS1)
XM_006717940.2:c.423+1G>C (CDH23) XP_006718003.1:n.423+1G>C
XM_006717942.2:c.423+1G>C (CDH23) XP_006718005.1:n.423+1G>C
XM_011540039.1:c.423+1G>C (CDH23) XP_011538341.1:n.423+1G>C
XM_011540040.1:c.423+1G>C (CDH23) XP_011538342.1:n.423+1G>C
XM_011540041.1:c.423+1G>C (CDH23) XP_011538343.1:n.423+1G>C
XM_011540042.1:c.423+1G>C (CDH23) XP_011538344.1:n.423+1G>C
XM_011540043.1:c.423+1G>C (CDH23) XP_011538345.1:n.423+1G>C
XM_011540044.1:c.288+1G>C (CDH23) XP_011538346.1:n.288+1G>C
XM_011540045.1:c.423+1G>C (CDH23) XP_011538347.1:n.423+1G>C
XM_011540048.1:c.423+1G>C (CDH23) XP_011538350.1:n.423+1G>C
XM_011540049.1:c.423+1G>C (CDH23) XP_011538351.1:n.423+1G>C
XM_011540050.1:c.423+1G>C (CDH23) XP_011538352.1:n.423+1G>C
XM_011540051.1:c.423+1G>C (CDH23) XP_011538353.1:n.423+1G>C
XM_011540053.1:c.423+1G>C (CDH23) XP_011538355.1:n.423+1G>C
XM_011540054.1:c.423+1G>C (CDH23) XP_011538356.1:n.423+1G>C
XR_945796.1:n.666+1G>C (CDH23)
NM_001171930.2:c.288+1G>C (CDH23) NP_001165401.1:n.288+1G>C
NM_001171931.2:c.288+1G>C (CDH23) NP_001165402.1:n.288+1G>C
NM_022124.6:c.288+1G>C (CDH23) MANE Select NP_071407.4:n.288+1G>C
NM_052836.4:c.288+1G>C (CDH23) NP_443068.1:n.288+1G>C
NM_001171932.2:c.288+1G>C (CDH23) NP_001165403.1:n.288+1G>C