Canonical Allele Identifier: CA1918874288

Gene: CDH23

Linked Data

• ClinVar Variation Id: 1662066
• ClinVar RCV Id: RCV002193395
• dbSNP Id: rs376414352
• gnomAD v4: 10-71793349-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71793349A>C , CM000672.2:g.71793349A>C	GRCh38
NC_000010.10:g.73553106A>C , CM000672.1:g.73553106A>C	GRCh37
NC_000010.9:g.73223112A>C	NCBI36
NG_008835.1:g.401403A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000224721.12:c.6421A>C MANE Select	ENSP00000224721.9:p.Arg2141=
ENST00000224721.10:c.6436A>C	ENSP00000224721.8:p.Arg2146=
ENST00000622827.4:c.6421A>C	ENSP00000483211.1:p.Arg2141=
NM_022124.5:c.6421A>C	NP_071407.4:p.Arg2141=
XM_006717940.2:c.6616A>C	XP_006718003.1:p.Arg2206=
XM_006717942.2:c.6550A>C	XP_006718005.1:p.Arg2184=
XM_011540039.1:c.6613A>C	XP_011538341.1:p.Arg2205=
XM_011540040.1:c.6610A>C	XP_011538342.1:p.Arg2204=
XM_011540041.1:c.6556A>C	XP_011538343.1:p.Arg2186=
XM_011540042.1:c.6577+39A>C	XP_011538344.1:n.6577+39A>C
XM_011540043.1:c.6616A>C	XP_011538345.1:p.Arg2206=
XM_011540044.1:c.6481A>C	XP_011538346.1:p.Arg2161=
XM_011540045.1:c.6616A>C	XP_011538347.1:p.Arg2206=
XM_011540046.1:c.6076A>C	XP_011538348.1:p.Arg2026=
XM_011540047.1:c.5434A>C	XP_011538349.1:p.Arg1812=
XM_011540048.1:c.6616A>C	XP_011538350.1:p.Arg2206=
XM_011540049.1:c.6616A>C	XP_011538351.1:p.Arg2206=
XM_011540050.1:c.6616A>C	XP_011538352.1:p.Arg2206=
XM_011540051.1:c.6616A>C	XP_011538353.1:p.Arg2206=
XM_011540052.1:c.2944A>C	XP_011538354.1:p.Arg982=
XR_945796.1:n.6859A>C
NM_022124.6:c.6421A>C MANE Select	NP_071407.4:p.Arg2141=