Canonical Allele Identifier: CA137358
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 45910
dbSNP Id: rs377100683

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71709124G>T , CM000672.2:g.71709124G>T GRCh38
NC_000010.10:g.73468881G>T , CM000672.1:g.73468881G>T GRCh37
NC_000010.9:g.73138887G>T NCBI36
NG_008835.1:g.317178G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000224721.12:c.3133G>T MANE Select ENSP00000224721.9:p.Val1045Leu
ENST00000398809.9:c.3133G>T ENSP00000381789.5:p.Val1045Leu
ENST00000442677.4:c.3133G>T ENSP00000388894.3:p.Val1045Leu
ENST00000466757.8:c.2564G>T
ENST00000224721.10:c.3148G>T ENSP00000224721.8:p.Val1050Leu
ENST00000398809.8:c.3133G>T ENSP00000381789.5:p.Val1045Leu
ENST00000442677.3:c.1908G>T
ENST00000466757.7:c.2564G>T
ENST00000616684.4:c.3133G>T ENSP00000482036.2:p.Val1045Leu
ENST00000622827.4:c.3133G>T ENSP00000483211.1:p.Val1045Leu
NM_001171930.1:c.3133G>T NP_001165401.1:p.Val1045Leu
NM_022124.5:c.3133G>T NP_071407.4:p.Val1045Leu
XM_006717940.2:c.3328G>T XP_006718003.1:p.Val1110Leu
XM_006717942.2:c.3262G>T XP_006718005.1:p.Val1088Leu
XM_011540039.1:c.3328G>T XP_011538341.1:p.Val1110Leu
XM_011540040.1:c.3322G>T XP_011538342.1:p.Val1108Leu
XM_011540041.1:c.3268G>T XP_011538343.1:p.Val1090Leu
XM_011540042.1:c.3328G>T XP_011538344.1:p.Val1110Leu
XM_011540043.1:c.3328G>T XP_011538345.1:p.Val1110Leu
XM_011540044.1:c.3193G>T XP_011538346.1:p.Val1065Leu
XM_011540045.1:c.3328G>T XP_011538347.1:p.Val1110Leu
XM_011540046.1:c.2788G>T XP_011538348.1:p.Val930Leu
XM_011540047.1:c.2146G>T XP_011538349.1:p.Val716Leu
XM_011540048.1:c.3328G>T XP_011538350.1:p.Val1110Leu
XM_011540049.1:c.3328G>T XP_011538351.1:p.Val1110Leu
XM_011540050.1:c.3328G>T XP_011538352.1:p.Val1110Leu
XM_011540051.1:c.3328G>T XP_011538353.1:p.Val1110Leu
XM_011540053.1:c.3328G>T XP_011538355.1:p.Val1110Leu
XR_945796.1:n.3571G>T
NM_001171930.2:c.3133G>T NP_001165401.1:p.Val1045Leu
NM_022124.6:c.3133G>T MANE Select NP_071407.4:p.Val1045Leu