Canonical Allele Identifier: CA377162322

Gene: CDH23

Linked Data

• gnomAD v4: 10-71806189-C-G
• MyVariant Identifiers: chr10:g.73565946C>G (hg19) ; chr10:g.71806189C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71806189C>G , CM000672.2:g.71806189C>G	GRCh38
NC_000010.10:g.73565946C>G , CM000672.1:g.73565946C>G	GRCh37
NC_000010.9:g.73235952C>G	NCBI36
NG_008835.1:g.414243C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.8086C>G MANE Select	ENSP00000224721.9:p.Leu2696Val
ENST00000642965.1:c.2019C>G	ENSP00000495222.1:n.2019C>G
ENST00000647092.1:c.1683C>G	ENSP00000495176.1:n.1683C>G
ENST00000224721.10:c.8101C>G	ENSP00000224721.8:p.Leu2701Val
ENST00000398788.4:c.1366C>G	ENSP00000381768.3:p.Leu456Val
ENST00000475158.1:n.1622C>G
ENST00000619887.4:c.1366C>G	ENSP00000478374.1:p.Leu456Val
ENST00000622827.4:c.8086C>G	ENSP00000483211.1:p.Leu2696Val
NM_001171933.1:c.1366C>G	NP_001165404.1:p.Leu456Val
NM_001171934.1:c.1366C>G	NP_001165405.1:p.Leu456Val
NM_022124.5:c.8086C>G	NP_071407.4:p.Leu2696Val
XM_006717940.2:c.8281C>G	XP_006718003.1:p.Leu2761Val
XM_006717942.2:c.8215C>G	XP_006718005.1:p.Leu2739Val
XM_011540039.1:c.8278C>G	XP_011538341.1:p.Leu2760Val
XM_011540040.1:c.8275C>G	XP_011538342.1:p.Leu2759Val
XM_011540041.1:c.8221C>G	XP_011538343.1:p.Leu2741Val
XM_011540042.1:c.8191C>G	XP_011538344.1:p.Leu2731Val
XM_011540043.1:c.8281C>G	XP_011538345.1:p.Leu2761Val
XM_011540044.1:c.8146C>G	XP_011538346.1:p.Leu2716Val
XM_011540045.1:c.8281C>G	XP_011538347.1:p.Leu2761Val
XM_011540046.1:c.7741C>G	XP_011538348.1:p.Leu2581Val
XM_011540047.1:c.7099C>G	XP_011538349.1:p.Leu2367Val
XM_011540052.1:c.4609C>G	XP_011538354.1:p.Leu1537Val
NM_022124.6:c.8086C>G MANE Select	NP_071407.4:p.Leu2696Val