Canonical Allele Identifier: CA470282068

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1975871
• ClinVar RCV Id: RCV002746806
• gnomAD v4: 10-71799531-C-T
• MyVariant Identifiers: chr10:g.73559288C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71799531C>T , CM000672.2:g.71799531C>T	GRCh38
NC_000010.10:g.73559288C>T , CM000672.1:g.73559288C>T	GRCh37
NC_000010.9:g.73229294C>T	NCBI36
NG_008835.1:g.407585C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.7264C>T MANE Select	ENSP00000224721.9:p.Leu2422=
ENST00000642965.1:c.1197C>T	ENSP00000495222.1:n.1197C>T
ENST00000647092.1:c.861C>T	ENSP00000495176.1:n.861C>T
ENST00000224721.10:c.7279C>T	ENSP00000224721.8:p.Leu2427=
ENST00000398788.4:c.544C>T	ENSP00000381768.3:p.Leu182=
ENST00000475158.1:n.800C>T
ENST00000619887.4:c.544C>T	ENSP00000478374.1:p.Leu182=
ENST00000622827.4:c.7264C>T	ENSP00000483211.1:p.Leu2422=
NM_001171933.1:c.544C>T	NP_001165404.1:p.Leu182=
NM_001171934.1:c.544C>T	NP_001165405.1:p.Leu182=
NM_022124.5:c.7264C>T	NP_071407.4:p.Leu2422=
XM_006717940.2:c.7459C>T	XP_006718003.1:p.Leu2487=
XM_006717942.2:c.7393C>T	XP_006718005.1:p.Leu2465=
XM_011540039.1:c.7456C>T	XP_011538341.1:p.Leu2486=
XM_011540040.1:c.7453C>T	XP_011538342.1:p.Leu2485=
XM_011540041.1:c.7399C>T	XP_011538343.1:p.Leu2467=
XM_011540042.1:c.7369C>T	XP_011538344.1:p.Leu2457=
XM_011540043.1:c.7459C>T	XP_011538345.1:p.Leu2487=
XM_011540044.1:c.7324C>T	XP_011538346.1:p.Leu2442=
XM_011540045.1:c.7459C>T	XP_011538347.1:p.Leu2487=
XM_011540046.1:c.6919C>T	XP_011538348.1:p.Leu2307=
XM_011540047.1:c.6277C>T	XP_011538349.1:p.Leu2093=
XM_011540052.1:c.3787C>T	XP_011538354.1:p.Leu1263=
NM_022124.6:c.7264C>T MANE Select	NP_071407.4:p.Leu2422=