Canonical Allele Identifier: CA5544514

Gene: CDH23

Linked Data

• dbSNP Id: rs778002868
• ExAC: 10:73468967 C / T
• gnomAD v2: 10-73468967-C-T
• gnomAD v4: 10-71709210-C-T
• COSMIC: COSM3440268 ; COSM3440269
• MyVariant Identifiers: chr10:g.73468967C>T (hg19) ; chr10:g.71709210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71709210C>T , CM000672.2:g.71709210C>T	GRCh38
NC_000010.10:g.73468967C>T , CM000672.1:g.73468967C>T	GRCh37
NC_000010.9:g.73138973C>T	NCBI36
NG_008835.1:g.317264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224721.12:c.3219C>T MANE Select	ENSP00000224721.9:p.Ile1073=
ENST00000398809.9:c.3219C>T	ENSP00000381789.5:p.Ile1073=
ENST00000442677.4:c.3219C>T	ENSP00000388894.3:p.Ile1073=
ENST00000466757.8:c.2650C>T
ENST00000224721.10:c.3234C>T	ENSP00000224721.8:p.Ile1078=
ENST00000398809.8:c.3219C>T	ENSP00000381789.5:p.Ile1073=
ENST00000442677.3:c.1994C>T
ENST00000466757.7:c.2650C>T
ENST00000616684.4:c.3219C>T	ENSP00000482036.2:p.Ile1073=
ENST00000622827.4:c.3219C>T	ENSP00000483211.1:p.Ile1073=
NM_001171930.1:c.3219C>T	NP_001165401.1:p.Ile1073=
NM_022124.5:c.3219C>T	NP_071407.4:p.Ile1073=
XM_006717940.2:c.3414C>T	XP_006718003.1:p.Ile1138=
XM_006717942.2:c.3348C>T	XP_006718005.1:p.Ile1116=
XM_011540039.1:c.3414C>T	XP_011538341.1:p.Ile1138=
XM_011540040.1:c.3408C>T	XP_011538342.1:p.Ile1136=
XM_011540041.1:c.3354C>T	XP_011538343.1:p.Ile1118=
XM_011540042.1:c.3414C>T	XP_011538344.1:p.Ile1138=
XM_011540043.1:c.3414C>T	XP_011538345.1:p.Ile1138=
XM_011540044.1:c.3279C>T	XP_011538346.1:p.Ile1093=
XM_011540045.1:c.3414C>T	XP_011538347.1:p.Ile1138=
XM_011540046.1:c.2874C>T	XP_011538348.1:p.Ile958=
XM_011540047.1:c.2232C>T	XP_011538349.1:p.Ile744=
XM_011540048.1:c.3414C>T	XP_011538350.1:p.Ile1138=
XM_011540049.1:c.3414C>T	XP_011538351.1:p.Ile1138=
XM_011540050.1:c.3414C>T	XP_011538352.1:p.Ile1138=
XM_011540051.1:c.3414C>T	XP_011538353.1:p.Ile1138=
XM_011540053.1:c.3414C>T	XP_011538355.1:p.Ile1138=
XR_945796.1:n.3657C>T
NM_001171930.2:c.3219C>T	NP_001165401.1:p.Ile1073=
NM_022124.6:c.3219C>T MANE Select	NP_071407.4:p.Ile1073=