Canonical Allele Identifier: CA377141156
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 446445
ClinVar RCV Id: RCV000515701 RCV003476212
dbSNP Id: rs758382198
gnomAD v4: 10-71778268-A-C
MyVariant Identifiers: chr10:g.73538025A>C (hg19) chr10:g.71778268A>C (hg38)
PubMed: PMID:25963016
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71778268A>C , CM000672.2:g.71778268A>C GRCh38
NC_000010.10:g.73538025A>C , CM000672.1:g.73538025A>C GRCh37
NC_000010.9:g.73208031A>C NCBI36
NG_008835.1:g.386322A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.5147A>C MANE Select ENSP00000224721.9:p.Gln1716Pro
ENST00000224721.10:c.5162A>C ENSP00000224721.8:p.Gln1721Pro
ENST00000622827.4:c.5147A>C ENSP00000483211.1:p.Gln1716Pro
NM_022124.5:c.5147A>C NP_071407.4:p.Gln1716Pro
XM_006717940.2:c.5342A>C XP_006718003.1:p.Gln1781Pro
XM_006717942.2:c.5276A>C XP_006718005.1:p.Gln1759Pro
XM_011540039.1:c.5339A>C XP_011538341.1:p.Gln1780Pro
XM_011540040.1:c.5336A>C XP_011538342.1:p.Gln1779Pro
XM_011540041.1:c.5282A>C XP_011538343.1:p.Gln1761Pro
XM_011540042.1:c.5342A>C XP_011538344.1:p.Gln1781Pro
XM_011540043.1:c.5342A>C XP_011538345.1:p.Gln1781Pro
XM_011540044.1:c.5207A>C XP_011538346.1:p.Gln1736Pro
XM_011540045.1:c.5342A>C XP_011538347.1:p.Gln1781Pro
XM_011540046.1:c.4802A>C XP_011538348.1:p.Gln1601Pro
XM_011540047.1:c.4160A>C XP_011538349.1:p.Gln1387Pro
XM_011540048.1:c.5342A>C XP_011538350.1:p.Gln1781Pro
XM_011540049.1:c.5342A>C XP_011538351.1:p.Gln1781Pro
XM_011540050.1:c.5342A>C XP_011538352.1:p.Gln1781Pro
XM_011540051.1:c.5342A>C XP_011538353.1:p.Gln1781Pro
XM_011540052.1:c.1670A>C XP_011538354.1:p.Gln557Pro
XM_011540053.1:c.5342A>C XP_011538355.1:p.Gln1781Pro
XR_945796.1:n.5585A>C
NM_022124.6:c.5147A>C MANE Select NP_071407.4:p.Gln1716Pro
Search 100 bp 5'
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