Canonical Allele Identifier: CA377157638

Gene: CDH23

Linked Data

• dbSNP Id: rs1489360814
• gnomAD v2: 10-73558115-G-C
• gnomAD v4: 10-71798358-G-C
• MyVariant Identifiers: chr10:g.73558115G>C (hg19) ; chr10:g.71798358G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71798358G>C , CM000672.2:g.71798358G>C	GRCh38
NC_000010.10:g.73558115G>C , CM000672.1:g.73558115G>C	GRCh37
NC_000010.9:g.73228121G>C	NCBI36
NG_008835.1:g.406412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.6834G>C MANE Select	ENSP00000224721.9:p.Lys2278Asn
ENST00000642965.1:c.767G>C	ENSP00000495222.1:n.767G>C
ENST00000647092.1:c.431G>C	ENSP00000495176.1:n.431G>C
ENST00000224721.10:c.6849G>C	ENSP00000224721.8:p.Lys2283Asn
ENST00000398788.4:c.114G>C	ENSP00000381768.3:p.Lys38Asn
ENST00000475158.1:n.370G>C
ENST00000619887.4:c.114G>C	ENSP00000478374.1:p.Lys38Asn
ENST00000622827.4:c.6834G>C	ENSP00000483211.1:p.Lys2278Asn
NM_001171933.1:c.114G>C	NP_001165404.1:p.Lys38Asn
NM_001171934.1:c.114G>C	NP_001165405.1:p.Lys38Asn
NM_022124.5:c.6834G>C	NP_071407.4:p.Lys2278Asn
XM_006717940.2:c.7029G>C	XP_006718003.1:p.Lys2343Asn
XM_006717942.2:c.6963G>C	XP_006718005.1:p.Lys2321Asn
XM_011540039.1:c.7026G>C	XP_011538341.1:p.Lys2342Asn
XM_011540040.1:c.7023G>C	XP_011538342.1:p.Lys2341Asn
XM_011540041.1:c.6969G>C	XP_011538343.1:p.Lys2323Asn
XM_011540042.1:c.6939G>C	XP_011538344.1:p.Lys2313Asn
XM_011540043.1:c.7029G>C	XP_011538345.1:p.Lys2343Asn
XM_011540044.1:c.6894G>C	XP_011538346.1:p.Lys2298Asn
XM_011540045.1:c.7029G>C	XP_011538347.1:p.Lys2343Asn
XM_011540046.1:c.6489G>C	XP_011538348.1:p.Lys2163Asn
XM_011540047.1:c.5847G>C	XP_011538349.1:p.Lys1949Asn
XM_011540052.1:c.3357G>C	XP_011538354.1:p.Lys1119Asn
NM_022124.6:c.6834G>C MANE Select	NP_071407.4:p.Lys2278Asn