Canonical Allele Identifier: CA377155195

Gene: CDH23

Linked Data

• ClinVar Variation Id: 2121780
• ClinVar RCV Id: RCV003049330
• dbSNP Id: rs1267165396
• gnomAD v2: 10-73553184-A-G
• gnomAD v4: 10-71793427-A-G
• MyVariant Identifiers: chr10:g.73553184A>G (hg19) ; chr10:g.71793427A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793427A>G , CM000672.2:g.71793427A>G	GRCh38
NC_000010.10:g.73553184A>G , CM000672.1:g.73553184A>G	GRCh37
NC_000010.9:g.73223190A>G	NCBI36
NG_008835.1:g.401481A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6499A>G MANE Select	ENSP00000224721.9:p.Ile2167Val
ENST00000224721.10:c.6514A>G	ENSP00000224721.8:p.Ile2172Val
ENST00000622827.4:c.6499A>G	ENSP00000483211.1:p.Ile2167Val
NM_022124.5:c.6499A>G	NP_071407.4:p.Ile2167Val
XM_006717940.2:c.6694A>G	XP_006718003.1:p.Ile2232Val
XM_006717942.2:c.6628A>G	XP_006718005.1:p.Ile2210Val
XM_011540039.1:c.6691A>G	XP_011538341.1:p.Ile2231Val
XM_011540040.1:c.6688A>G	XP_011538342.1:p.Ile2230Val
XM_011540041.1:c.6634A>G	XP_011538343.1:p.Ile2212Val
XM_011540042.1:c.6604A>G	XP_011538344.1:p.Ile2202Val
XM_011540043.1:c.6694A>G	XP_011538345.1:p.Ile2232Val
XM_011540044.1:c.6559A>G	XP_011538346.1:p.Ile2187Val
XM_011540045.1:c.6694A>G	XP_011538347.1:p.Ile2232Val
XM_011540046.1:c.6154A>G	XP_011538348.1:p.Ile2052Val
XM_011540047.1:c.5512A>G	XP_011538349.1:p.Ile1838Val
XM_011540048.1:c.6694A>G	XP_011538350.1:p.Ile2232Val
XM_011540049.1:c.6694A>G	XP_011538351.1:p.Ile2232Val
XM_011540050.1:c.6694A>G	XP_011538352.1:p.Ile2232Val
XM_011540051.1:c.6694A>G	XP_011538353.1:p.Ile2232Val
XM_011540052.1:c.3022A>G	XP_011538354.1:p.Ile1008Val
XR_945796.1:n.6937A>G
NM_022124.6:c.6499A>G MANE Select	NP_071407.4:p.Ile2167Val