Canonical Allele Identifier: CA5545691

Gene: CDH23

Linked Data

• ClinVar Variation Id: 300441
• ClinVar RCV Id: RCV000288653 ; RCV000594106 ; RCV001273555 ; RCV000343595 ; RCV003475927 ; RCV003165814
• dbSNP Id: rs191021194
• ExAC: 10:73539064 C / A
• gnomAD v2: 10-73539064-C-A
• gnomAD v3: 10-71779307-C-A
• gnomAD v4: 10-71779307-C-A
• MyVariant Identifiers: chr10:g.73539064C>A (hg19) ; chr10:g.71779307C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71779307C>A , CM000672.2:g.71779307C>A	GRCh38
NC_000010.10:g.73539064C>A , CM000672.1:g.73539064C>A	GRCh37
NC_000010.9:g.73209070C>A	NCBI36
NG_008835.1:g.387361C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5228C>A MANE Select	ENSP00000224721.9:p.Thr1743Asn
ENST00000224721.10:c.5243C>A	ENSP00000224721.8:p.Thr1748Asn
ENST00000622827.4:c.5228C>A	ENSP00000483211.1:p.Thr1743Asn
NM_022124.5:c.5228C>A	NP_071407.4:p.Thr1743Asn
XM_006717940.2:c.5423C>A	XP_006718003.1:p.Thr1808Asn
XM_006717942.2:c.5357C>A	XP_006718005.1:p.Thr1786Asn
XM_011540039.1:c.5420C>A	XP_011538341.1:p.Thr1807Asn
XM_011540040.1:c.5417C>A	XP_011538342.1:p.Thr1806Asn
XM_011540041.1:c.5363C>A	XP_011538343.1:p.Thr1788Asn
XM_011540042.1:c.5423C>A	XP_011538344.1:p.Thr1808Asn
XM_011540043.1:c.5423C>A	XP_011538345.1:p.Thr1808Asn
XM_011540044.1:c.5288C>A	XP_011538346.1:p.Thr1763Asn
XM_011540045.1:c.5423C>A	XP_011538347.1:p.Thr1808Asn
XM_011540046.1:c.4883C>A	XP_011538348.1:p.Thr1628Asn
XM_011540047.1:c.4241C>A	XP_011538349.1:p.Thr1414Asn
XM_011540048.1:c.5423C>A	XP_011538350.1:p.Thr1808Asn
XM_011540049.1:c.5423C>A	XP_011538351.1:p.Thr1808Asn
XM_011540050.1:c.5423C>A	XP_011538352.1:p.Thr1808Asn
XM_011540051.1:c.5423C>A	XP_011538353.1:p.Thr1808Asn
XM_011540052.1:c.1751C>A	XP_011538354.1:p.Thr584Asn
XM_011540053.1:c.5423C>A	XP_011538355.1:p.Thr1808Asn
XR_945796.1:n.5666C>A
NM_022124.6:c.5228C>A MANE Select	NP_071407.4:p.Thr1743Asn