Canonical Allele Identifier: CA185013

Gene: CDH23

Linked Data

• ClinVar Variation Id: 179731
• ClinVar RCV Id: RCV000766640 ; RCV001106863 ; RCV000778901 ; RCV002492595 ; RCV001835699 ; RCV003474814
• dbSNP Id: rs200635365
• ExAC: 10:73499446 A / G
• gnomAD v2: 10-73499446-A-G
• gnomAD v3: 10-71739689-A-G
• gnomAD v4: 10-71739689-A-G
• COSMIC: COSM4573783
• MyVariant Identifiers: chr10:g.73499446A>G (hg19) ; chr10:g.71739689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71739689A>G , CM000672.2:g.71739689A>G	GRCh38
NC_000010.10:g.73499446A>G , CM000672.1:g.73499446A>G	GRCh37
NC_000010.9:g.73169452A>G	NCBI36
NG_008835.1:g.347743A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.4405A>G MANE Select	ENSP00000224721.9:p.Ile1469Val
ENST00000224721.10:c.4420A>G	ENSP00000224721.8:p.Ile1474Val
ENST00000398792.3:n.1094A>G
ENST00000622827.4:c.4405A>G	ENSP00000483211.1:p.Ile1469Val
NM_022124.5:c.4405A>G	NP_071407.4:p.Ile1469Val
XM_006717940.2:c.4600A>G	XP_006718003.1:p.Ile1534Val
XM_006717942.2:c.4534A>G	XP_006718005.1:p.Ile1512Val
XM_011540039.1:c.4597A>G	XP_011538341.1:p.Ile1533Val
XM_011540040.1:c.4594A>G	XP_011538342.1:p.Ile1532Val
XM_011540041.1:c.4540A>G	XP_011538343.1:p.Ile1514Val
XM_011540042.1:c.4600A>G	XP_011538344.1:p.Ile1534Val
XM_011540043.1:c.4600A>G	XP_011538345.1:p.Ile1534Val
XM_011540044.1:c.4465A>G	XP_011538346.1:p.Ile1489Val
XM_011540045.1:c.4600A>G	XP_011538347.1:p.Ile1534Val
XM_011540046.1:c.4060A>G	XP_011538348.1:p.Ile1354Val
XM_011540047.1:c.3418A>G	XP_011538349.1:p.Ile1140Val
XM_011540048.1:c.4600A>G	XP_011538350.1:p.Ile1534Val
XM_011540049.1:c.4600A>G	XP_011538351.1:p.Ile1534Val
XM_011540050.1:c.4600A>G	XP_011538352.1:p.Ile1534Val
XM_011540051.1:c.4600A>G	XP_011538353.1:p.Ile1534Val
XM_011540052.1:c.928A>G	XP_011538354.1:p.Ile310Val
XM_011540053.1:c.4600A>G	XP_011538355.1:p.Ile1534Val
XR_945796.1:n.4843A>G
NM_022124.6:c.4405A>G MANE Select	NP_071407.4:p.Ile1469Val