Canonical Allele Identifier: CA377154451

Gene: CDH23

Linked Data

• ClinVar Variation Id: 437903
• ClinVar RCV Id: RCV000504590 ; RCV002524399
• dbSNP Id: rs1270566026
• gnomAD v2: 10-73553029-G-A
• gnomAD v3: 10-71793272-G-A
• gnomAD v4: 10-71793272-G-A
• MyVariant Identifiers: chr10:g.73553029G>A (hg19) ; chr10:g.71793272G>A (hg38)
• PubMed: PMID:28413019

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793272G>A , CM000672.2:g.71793272G>A	GRCh38
NC_000010.10:g.73553029G>A , CM000672.1:g.73553029G>A	GRCh37
NC_000010.9:g.73223035G>A	NCBI36
NG_008835.1:g.401326G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6344G>A MANE Select	ENSP00000224721.9:p.Arg2115His
ENST00000224721.10:c.6359G>A	ENSP00000224721.8:p.Arg2120His
ENST00000622827.4:c.6344G>A	ENSP00000483211.1:p.Arg2115His
NM_022124.5:c.6344G>A	NP_071407.4:p.Arg2115His
XM_006717940.2:c.6539G>A	XP_006718003.1:p.Arg2180His
XM_006717942.2:c.6473G>A	XP_006718005.1:p.Arg2158His
XM_011540039.1:c.6536G>A	XP_011538341.1:p.Arg2179His
XM_011540040.1:c.6533G>A	XP_011538342.1:p.Arg2178His
XM_011540041.1:c.6479G>A	XP_011538343.1:p.Arg2160His
XM_011540042.1:c.6539G>A	XP_011538344.1:p.Arg2180His
XM_011540043.1:c.6539G>A	XP_011538345.1:p.Arg2180His
XM_011540044.1:c.6404G>A	XP_011538346.1:p.Arg2135His
XM_011540045.1:c.6539G>A	XP_011538347.1:p.Arg2180His
XM_011540046.1:c.5999G>A	XP_011538348.1:p.Arg2000His
XM_011540047.1:c.5357G>A	XP_011538349.1:p.Arg1786His
XM_011540048.1:c.6539G>A	XP_011538350.1:p.Arg2180His
XM_011540049.1:c.6539G>A	XP_011538351.1:p.Arg2180His
XM_011540050.1:c.6539G>A	XP_011538352.1:p.Arg2180His
XM_011540051.1:c.6539G>A	XP_011538353.1:p.Arg2180His
XM_011540052.1:c.2867G>A	XP_011538354.1:p.Arg956His
XR_945796.1:n.6782G>A
NM_022124.6:c.6344G>A MANE Select	NP_071407.4:p.Arg2115His