Canonical Allele Identifier: CA5579649

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84203040G>A , CM000672.2:g.84203040G>A	GRCh38
NC_000010.10:g.85962796G>A , CM000672.1:g.85962796G>A	GRCh37
NC_000010.9:g.85952776G>A	NCBI36
NG_028034.1:g.13385G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.700G>A MANE Select	NP_149091.1:p.Val234Ile
ENST00000623527.4:c.700G>A MANE Select	ENSP00000485478.1:p.Val234Ile
NM_001171971.2:c.700G>A	NP_001165442.1:p.Val234Ile
NM_001171971.3:c.700G>A	NP_001165442.1:p.Val234Ile
NM_033100.3:c.700G>A	NP_149091.1:p.Val234Ile
ENST00000332904.7:c.700G>A	ENSP00000331063.3:p.Val234Ile
ENST00000372117.6:c.80G>A
ENST00000623527.3:c.700G>A	ENSP00000485478.1:p.Val234Ile
XM_011540337.1:c.874G>A	XP_011538639.1:p.Val292Ile
XM_011540338.1:c.874G>A	XP_011538640.1:p.Val292Ile
XM_011540339.1:c.321G>A	XP_011538641.1:p.Arg107=
XM_011540340.1:c.874G>A	XP_011538642.1:p.Val292Ile
XM_011540340.3:c.874G>A	XP_011538642.1:p.Val292Ile