Canonical Allele Identifier: CA377131415

Gene: CDH23

Linked Data

• dbSNP Id: rs1175142882
• gnomAD v2: 10-73567335-C-G
• gnomAD v3: 10-71807578-C-G
• gnomAD v4: 10-71807578-C-G
• MyVariant Identifiers: chr10:g.73567335C>G (hg19) ; chr10:g.71807578C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807578C>G , CM000672.2:g.71807578C>G	GRCh38
NC_000010.10:g.73567335C>G , CM000672.1:g.73567335C>G	GRCh37
NC_000010.9:g.73237341C>G	NCBI36
NG_008835.1:g.415632C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8371C>G MANE Select	ENSP00000224721.9:p.Leu2791Val
ENST00000642965.1:c.2304C>G	ENSP00000495222.1:n.2304C>G
ENST00000647092.1:c.1968C>G	ENSP00000495176.1:n.1968C>G
ENST00000224721.10:c.8386C>G	ENSP00000224721.8:p.Leu2796Val
ENST00000398788.4:c.1651C>G	ENSP00000381768.3:p.Leu551Val
ENST00000475158.1:n.1907C>G
ENST00000619887.4:c.1651C>G	ENSP00000478374.1:p.Leu551Val
ENST00000622827.4:c.8371C>G	ENSP00000483211.1:p.Leu2791Val
NM_001171933.1:c.1651C>G	NP_001165404.1:p.Leu551Val
NM_001171934.1:c.1651C>G	NP_001165405.1:p.Leu551Val
NM_022124.5:c.8371C>G	NP_071407.4:p.Leu2791Val
XM_006717940.2:c.8566C>G	XP_006718003.1:p.Leu2856Val
XM_006717942.2:c.8500C>G	XP_006718005.1:p.Leu2834Val
XM_011540039.1:c.8563C>G	XP_011538341.1:p.Leu2855Val
XM_011540040.1:c.8560C>G	XP_011538342.1:p.Leu2854Val
XM_011540041.1:c.8506C>G	XP_011538343.1:p.Leu2836Val
XM_011540042.1:c.8476C>G	XP_011538344.1:p.Leu2826Val
XM_011540043.1:c.8566C>G	XP_011538345.1:p.Leu2856Val
XM_011540044.1:c.8431C>G	XP_011538346.1:p.Leu2811Val
XM_011540045.1:c.8566C>G	XP_011538347.1:p.Leu2856Val
XM_011540046.1:c.8026C>G	XP_011538348.1:p.Leu2676Val
XM_011540047.1:c.7384C>G	XP_011538349.1:p.Leu2462Val
XM_011540052.1:c.4894C>G	XP_011538354.1:p.Leu1632Val
NM_022124.6:c.8371C>G MANE Select	NP_071407.4:p.Leu2791Val