Canonical Allele Identifier: CA470282404

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1121187
• ClinVar RCV Id: RCV001451385
• dbSNP Id: rs1189340783
• gnomAD v2: 10-73567316-T-C
• gnomAD v4: 10-71807559-T-C
• MyVariant Identifiers: chr10:g.73567316T>C (hg19) ; chr10:g.71807559T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71807559T>C , CM000672.2:g.71807559T>C	GRCh38
NC_000010.10:g.73567316T>C , CM000672.1:g.73567316T>C	GRCh37
NC_000010.9:g.73237322T>C	NCBI36
NG_008835.1:g.415613T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.8352T>C MANE Select	ENSP00000224721.9:p.Cys2784=
ENST00000642965.1:c.2285T>C	ENSP00000495222.1:n.2285T>C
ENST00000647092.1:c.1949T>C	ENSP00000495176.1:n.1949T>C
ENST00000224721.10:c.8367T>C	ENSP00000224721.8:p.Cys2789=
ENST00000398788.4:c.1632T>C	ENSP00000381768.3:p.Cys544=
ENST00000475158.1:n.1888T>C
ENST00000619887.4:c.1632T>C	ENSP00000478374.1:p.Cys544=
ENST00000622827.4:c.8352T>C	ENSP00000483211.1:p.Cys2784=
NM_001171933.1:c.1632T>C	NP_001165404.1:p.Cys544=
NM_001171934.1:c.1632T>C	NP_001165405.1:p.Cys544=
NM_022124.5:c.8352T>C	NP_071407.4:p.Cys2784=
XM_006717940.2:c.8547T>C	XP_006718003.1:p.Cys2849=
XM_006717942.2:c.8481T>C	XP_006718005.1:p.Cys2827=
XM_011540039.1:c.8544T>C	XP_011538341.1:p.Cys2848=
XM_011540040.1:c.8541T>C	XP_011538342.1:p.Cys2847=
XM_011540041.1:c.8487T>C	XP_011538343.1:p.Cys2829=
XM_011540042.1:c.8457T>C	XP_011538344.1:p.Cys2819=
XM_011540043.1:c.8547T>C	XP_011538345.1:p.Cys2849=
XM_011540044.1:c.8412T>C	XP_011538346.1:p.Cys2804=
XM_011540045.1:c.8547T>C	XP_011538347.1:p.Cys2849=
XM_011540046.1:c.8007T>C	XP_011538348.1:p.Cys2669=
XM_011540047.1:c.7365T>C	XP_011538349.1:p.Cys2455=
XM_011540052.1:c.4875T>C	XP_011538354.1:p.Cys1625=
NM_022124.6:c.8352T>C MANE Select	NP_071407.4:p.Cys2784=