Canonical Allele Identifier: CA182077

Gene: CDH23

Linked Data

• ClinVar Variation Id: 178306
• ClinVar RCV Id: RCV000155050 ; RCV000292557 ; RCV000386845 ; RCV001519798
• dbSNP Id: rs367928867
• ExAC: 10:73537673 G / A
• gnomAD v2: 10-73537673-G-A
• gnomAD v3: 10-71777916-G-A
• gnomAD v4: 10-71777916-G-A
• MyVariant Identifiers: chr10:g.73537673G>A (hg19) ; chr10:g.71777916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71777916G>A , CM000672.2:g.71777916G>A	GRCh38
NC_000010.10:g.73537673G>A , CM000672.1:g.73537673G>A	GRCh37
NC_000010.9:g.73207679G>A	NCBI36
NG_008835.1:g.385970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.5067+15G>A MANE Select	ENSP00000224721.9:n.5067+15G>A
ENST00000224721.10:c.5082+15G>A	ENSP00000224721.8:n.5082+15G>A
ENST00000622827.4:c.5067+15G>A	ENSP00000483211.1:n.5067+15G>A
NM_022124.5:c.5067+15G>A	NP_071407.4:n.5067+15G>A
XM_006717940.2:c.5262+15G>A	XP_006718003.1:n.5262+15G>A
XM_006717942.2:c.5196+15G>A	XP_006718005.1:n.5196+15G>A
XM_011540039.1:c.5259+15G>A	XP_011538341.1:n.5259+15G>A
XM_011540040.1:c.5256+15G>A	XP_011538342.1:n.5256+15G>A
XM_011540041.1:c.5202+15G>A	XP_011538343.1:n.5202+15G>A
XM_011540042.1:c.5262+15G>A	XP_011538344.1:n.5262+15G>A
XM_011540043.1:c.5262+15G>A	XP_011538345.1:n.5262+15G>A
XM_011540044.1:c.5127+15G>A	XP_011538346.1:n.5127+15G>A
XM_011540045.1:c.5262+15G>A	XP_011538347.1:n.5262+15G>A
XM_011540046.1:c.4722+15G>A	XP_011538348.1:n.4722+15G>A
XM_011540047.1:c.4080+15G>A	XP_011538349.1:n.4080+15G>A
XM_011540048.1:c.5262+15G>A	XP_011538350.1:n.5262+15G>A
XM_011540049.1:c.5262+15G>A	XP_011538351.1:n.5262+15G>A
XM_011540050.1:c.5262+15G>A	XP_011538352.1:n.5262+15G>A
XM_011540051.1:c.5262+15G>A	XP_011538353.1:n.5262+15G>A
XM_011540052.1:c.1590+15G>A	XP_011538354.1:n.1590+15G>A
XM_011540053.1:c.5262+15G>A	XP_011538355.1:n.5262+15G>A
XR_945796.1:n.5505+15G>A
NM_022124.6:c.5067+15G>A MANE Select	NP_071407.4:n.5067+15G>A