Canonical Allele Identifier: CA182081

Gene: CDH23

Linked Data

• ClinVar Variation Id: 178309
• ClinVar RCV Id: RCV000155053 ; RCV001075025 ; RCV001305819 ; RCV001589015 ; RCV003474812
• dbSNP Id: rs373838930
• ExAC: 10:73550874 G / A
• gnomAD v2: 10-73550874-G-A
• gnomAD v3: 10-71791117-G-A
• gnomAD v4: 10-71791117-G-A
• MyVariant Identifiers: chr10:g.73550874G>A (hg19) ; chr10:g.71791117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71791117G>A , CM000672.2:g.71791117G>A	GRCh38
NC_000010.10:g.73550874G>A , CM000672.1:g.73550874G>A	GRCh37
NC_000010.9:g.73220880G>A	NCBI36
NG_008835.1:g.399171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6050-15G>A MANE Select	ENSP00000224721.9:n.6050-15G>A
ENST00000224721.10:c.6065-15G>A	ENSP00000224721.8:n.6065-15G>A
ENST00000622827.4:c.6050-15G>A	ENSP00000483211.1:n.6050-15G>A
NM_022124.5:c.6050-15G>A	NP_071407.4:n.6050-15G>A
XM_006717940.2:c.6245-15G>A	XP_006718003.1:n.6245-15G>A
XM_006717942.2:c.6179-15G>A	XP_006718005.1:n.6179-15G>A
XM_011540039.1:c.6242-15G>A	XP_011538341.1:n.6242-15G>A
XM_011540040.1:c.6239-15G>A	XP_011538342.1:n.6239-15G>A
XM_011540041.1:c.6185-15G>A	XP_011538343.1:n.6185-15G>A
XM_011540042.1:c.6245-15G>A	XP_011538344.1:n.6245-15G>A
XM_011540043.1:c.6245-15G>A	XP_011538345.1:n.6245-15G>A
XM_011540044.1:c.6110-15G>A	XP_011538346.1:n.6110-15G>A
XM_011540045.1:c.6245-15G>A	XP_011538347.1:n.6245-15G>A
XM_011540046.1:c.5705-15G>A	XP_011538348.1:n.5705-15G>A
XM_011540047.1:c.5063-15G>A	XP_011538349.1:n.5063-15G>A
XM_011540048.1:c.6245-15G>A	XP_011538350.1:n.6245-15G>A
XM_011540049.1:c.6245-15G>A	XP_011538351.1:n.6245-15G>A
XM_011540050.1:c.6245-15G>A	XP_011538352.1:n.6245-15G>A
XM_011540051.1:c.6245-15G>A	XP_011538353.1:n.6245-15G>A
XM_011540052.1:c.2573-15G>A	XP_011538354.1:n.2573-15G>A
XR_945796.1:n.6488-15G>A
NM_022124.6:c.6050-15G>A MANE Select	NP_071407.4:n.6050-15G>A