Canonical Allele Identifier: CA5546377

Gene: CDH23

Linked Data

• ClinVar Variation Id: 667212
• ClinVar RCV Id: RCV000825889 ; RCV001242078 ; RCV001825684
• dbSNP Id: rs369761606
• ExAC: 10:73562740 C / T
• gnomAD v2: 10-73562740-C-T
• gnomAD v3: 10-71802983-C-T
• gnomAD v4: 10-71802983-C-T
• MyVariant Identifiers: chr10:g.73562740C>T (hg19) ; chr10:g.71802983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71802983C>T , CM000672.2:g.71802983C>T	GRCh38
NC_000010.10:g.73562740C>T , CM000672.1:g.73562740C>T	GRCh37
NC_000010.9:g.73232746C>T	NCBI36
NG_008835.1:g.411037C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7568C>T MANE Select	ENSP00000224721.9:p.Pro2523Leu
ENST00000642965.1:c.1501C>T	ENSP00000495222.1:n.1501C>T
ENST00000647092.1:c.1165C>T	ENSP00000495176.1:n.1165C>T
ENST00000224721.10:c.7583C>T	ENSP00000224721.8:p.Pro2528Leu
ENST00000398788.4:c.848C>T	ENSP00000381768.3:p.Pro283Leu
ENST00000475158.1:n.1104C>T
ENST00000619887.4:c.848C>T	ENSP00000478374.1:p.Pro283Leu
ENST00000622827.4:c.7568C>T	ENSP00000483211.1:p.Pro2523Leu
NM_001171933.1:c.848C>T	NP_001165404.1:p.Pro283Leu
NM_001171934.1:c.848C>T	NP_001165405.1:p.Pro283Leu
NM_022124.5:c.7568C>T	NP_071407.4:p.Pro2523Leu
XM_006717940.2:c.7763C>T	XP_006718003.1:p.Pro2588Leu
XM_006717942.2:c.7697C>T	XP_006718005.1:p.Pro2566Leu
XM_011540039.1:c.7760C>T	XP_011538341.1:p.Pro2587Leu
XM_011540040.1:c.7757C>T	XP_011538342.1:p.Pro2586Leu
XM_011540041.1:c.7703C>T	XP_011538343.1:p.Pro2568Leu
XM_011540042.1:c.7673C>T	XP_011538344.1:p.Pro2558Leu
XM_011540043.1:c.7763C>T	XP_011538345.1:p.Pro2588Leu
XM_011540044.1:c.7628C>T	XP_011538346.1:p.Pro2543Leu
XM_011540045.1:c.7763C>T	XP_011538347.1:p.Pro2588Leu
XM_011540046.1:c.7223C>T	XP_011538348.1:p.Pro2408Leu
XM_011540047.1:c.6581C>T	XP_011538349.1:p.Pro2194Leu
XM_011540052.1:c.4091C>T	XP_011538354.1:p.Pro1364Leu
NM_022124.6:c.7568C>T MANE Select	NP_071407.4:p.Pro2523Leu