Canonical Allele Identifier: CA5544992
Gene: CDH23 HGNC NCBI

Linked Data

ClinVar Variation Id: 1009489
ClinVar RCV Id: RCV001306987 RCV001835497
dbSNP Id: rs756231829
ExAC: 10:73498294 C / T
gnomAD v2: 10-73498294-C-T
gnomAD v3: 10-71738537-C-T
gnomAD v4: 10-71738537-C-T
MyVariant Identifiers: chr10:g.73498294C>T (hg19) chr10:g.71738537C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71738537C>T , CM000672.2:g.71738537C>T GRCh38
NC_000010.10:g.73498294C>T , CM000672.1:g.73498294C>T GRCh37
NC_000010.9:g.73168300C>T NCBI36
NG_008835.1:g.346591C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000224721.12:c.4249C>T MANE Select ENSP00000224721.9:p.Arg1417Trp
ENST00000224721.10:c.4264C>T ENSP00000224721.8:p.Arg1422Trp
ENST00000398792.3:n.938C>T
ENST00000622827.4:c.4249C>T ENSP00000483211.1:p.Arg1417Trp
NM_022124.5:c.4249C>T NP_071407.4:p.Arg1417Trp
XM_006717940.2:c.4444C>T XP_006718003.1:p.Arg1482Trp
XM_006717942.2:c.4378C>T XP_006718005.1:p.Arg1460Trp
XM_011540039.1:c.4441C>T XP_011538341.1:p.Arg1481Trp
XM_011540040.1:c.4438C>T XP_011538342.1:p.Arg1480Trp
XM_011540041.1:c.4384C>T XP_011538343.1:p.Arg1462Trp
XM_011540042.1:c.4444C>T XP_011538344.1:p.Arg1482Trp
XM_011540043.1:c.4444C>T XP_011538345.1:p.Arg1482Trp
XM_011540044.1:c.4309C>T XP_011538346.1:p.Arg1437Trp
XM_011540045.1:c.4444C>T XP_011538347.1:p.Arg1482Trp
XM_011540046.1:c.3904C>T XP_011538348.1:p.Arg1302Trp
XM_011540047.1:c.3262C>T XP_011538349.1:p.Arg1088Trp
XM_011540048.1:c.4444C>T XP_011538350.1:p.Arg1482Trp
XM_011540049.1:c.4444C>T XP_011538351.1:p.Arg1482Trp
XM_011540050.1:c.4444C>T XP_011538352.1:p.Arg1482Trp
XM_011540051.1:c.4444C>T XP_011538353.1:p.Arg1482Trp
XM_011540052.1:c.772C>T XP_011538354.1:p.Arg258Trp
XM_011540053.1:c.4444C>T XP_011538355.1:p.Arg1482Trp
XR_945796.1:n.4687C>T
NM_022124.6:c.4249C>T MANE Select NP_071407.4:p.Arg1417Trp
Search 100 bp 5'
Search 100 bp 3'