Canonical Allele Identifier: CA253328

Gene: CDH23

Linked Data

• ClinVar Variation Id: 4920
• ClinVar RCV Id: RCV000005202 ; RCV000818407 ; RCV001291219 ; RCV001831514 ; RCV003387716 ; RCV003472975
• dbSNP Id: rs121908349
• ExAC: 10:73553289 G / A
• gnomAD v2: 10-73553289-G-A
• gnomAD v3: 10-71793532-G-A
• gnomAD v4: 10-71793532-G-A
• COSMIC: COSM1238472
• MyVariant Identifiers: chr10:g.73553289G>A (hg19) ; chr10:g.71793532G>A (hg38)
• PubMed: PMID:11090341

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793532G>A , CM000672.2:g.71793532G>A	GRCh38
NC_000010.10:g.73553289G>A , CM000672.1:g.73553289G>A	GRCh37
NC_000010.9:g.73223295G>A	NCBI36
NG_008835.1:g.401586G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6604G>A MANE Select	ENSP00000224721.9:p.Asp2202Asn
ENST00000224721.10:c.6619G>A	ENSP00000224721.8:p.Asp2207Asn
ENST00000622827.4:c.6604G>A	ENSP00000483211.1:p.Asp2202Asn
NM_022124.5:c.6604G>A	NP_071407.4:p.Asp2202Asn
XM_006717940.2:c.6799G>A	XP_006718003.1:p.Asp2267Asn
XM_006717942.2:c.6733G>A	XP_006718005.1:p.Asp2245Asn
XM_011540039.1:c.6796G>A	XP_011538341.1:p.Asp2266Asn
XM_011540040.1:c.6793G>A	XP_011538342.1:p.Asp2265Asn
XM_011540041.1:c.6739G>A	XP_011538343.1:p.Asp2247Asn
XM_011540042.1:c.6709G>A	XP_011538344.1:p.Asp2237Asn
XM_011540043.1:c.6799G>A	XP_011538345.1:p.Asp2267Asn
XM_011540044.1:c.6664G>A	XP_011538346.1:p.Asp2222Asn
XM_011540045.1:c.6799G>A	XP_011538347.1:p.Asp2267Asn
XM_011540046.1:c.6259G>A	XP_011538348.1:p.Asp2087Asn
XM_011540047.1:c.5617G>A	XP_011538349.1:p.Asp1873Asn
XM_011540048.1:c.6799G>A	XP_011538350.1:p.Asp2267Asn
XM_011540049.1:c.6799G>A	XP_011538351.1:p.Asp2267Asn
XM_011540050.1:c.6799G>A	XP_011538352.1:p.Asp2267Asn
XM_011540051.1:c.6799G>A	XP_011538353.1:p.Asp2267Asn
XM_011540052.1:c.3127G>A	XP_011538354.1:p.Asp1043Asn
XR_945796.1:n.7042G>A
NM_022124.6:c.6604G>A MANE Select	NP_071407.4:p.Asp2202Asn