Canonical Allele Identifier: CA377155194

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1939908
• ClinVar RCV Id: RCV002650246
• gnomAD v4: 10-71793427-A-C
• MyVariant Identifiers: chr10:g.73553184A>C (hg19) ; chr10:g.71793427A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793427A>C , CM000672.2:g.71793427A>C	GRCh38
NC_000010.10:g.73553184A>C , CM000672.1:g.73553184A>C	GRCh37
NC_000010.9:g.73223190A>C	NCBI36
NG_008835.1:g.401481A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6499A>C MANE Select	ENSP00000224721.9:p.Ile2167Leu
ENST00000224721.10:c.6514A>C	ENSP00000224721.8:p.Ile2172Leu
ENST00000622827.4:c.6499A>C	ENSP00000483211.1:p.Ile2167Leu
NM_022124.5:c.6499A>C	NP_071407.4:p.Ile2167Leu
XM_006717940.2:c.6694A>C	XP_006718003.1:p.Ile2232Leu
XM_006717942.2:c.6628A>C	XP_006718005.1:p.Ile2210Leu
XM_011540039.1:c.6691A>C	XP_011538341.1:p.Ile2231Leu
XM_011540040.1:c.6688A>C	XP_011538342.1:p.Ile2230Leu
XM_011540041.1:c.6634A>C	XP_011538343.1:p.Ile2212Leu
XM_011540042.1:c.6604A>C	XP_011538344.1:p.Ile2202Leu
XM_011540043.1:c.6694A>C	XP_011538345.1:p.Ile2232Leu
XM_011540044.1:c.6559A>C	XP_011538346.1:p.Ile2187Leu
XM_011540045.1:c.6694A>C	XP_011538347.1:p.Ile2232Leu
XM_011540046.1:c.6154A>C	XP_011538348.1:p.Ile2052Leu
XM_011540047.1:c.5512A>C	XP_011538349.1:p.Ile1838Leu
XM_011540048.1:c.6694A>C	XP_011538350.1:p.Ile2232Leu
XM_011540049.1:c.6694A>C	XP_011538351.1:p.Ile2232Leu
XM_011540050.1:c.6694A>C	XP_011538352.1:p.Ile2232Leu
XM_011540051.1:c.6694A>C	XP_011538353.1:p.Ile2232Leu
XM_011540052.1:c.3022A>C	XP_011538354.1:p.Ile1008Leu
XR_945796.1:n.6937A>C
NM_022124.6:c.6499A>C MANE Select	NP_071407.4:p.Ile2167Leu