Canonical Allele Identifier: CA377380217

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84214547G>A , CM000672.2:g.84214547G>A	GRCh38
NC_000010.10:g.85974303G>A , CM000672.1:g.85974303G>A	GRCh37
NC_000010.9:g.85964283G>A	NCBI36
NG_028034.1:g.24892G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.2506G>A MANE Select	NP_149091.1:p.Val836Ile
ENST00000623527.4:c.2506G>A MANE Select	ENSP00000485478.1:p.Val836Ile
NM_001171971.2:c.2040+1199G>A	NP_001165442.1:n.2040+1199G>A
NM_001171971.3:c.2040+1199G>A	NP_001165442.1:n.2040+1199G>A
NM_033100.3:c.2506G>A	NP_149091.1:p.Val836Ile
ENST00000332904.7:c.2040+1199G>A	ENSP00000331063.3:n.2040+1199G>A
ENST00000372117.6:c.1721G>A
ENST00000459673.1:n.938G>A
ENST00000623399.1:c.211+1199G>A
ENST00000623527.3:c.2506G>A	ENSP00000485478.1:p.Val836Ile
XM_011540337.1:c.2680G>A	XP_011538639.1:p.Val894Ile
XM_011540338.1:c.2214+1199G>A	XP_011538640.1:n.2214+1199G>A
XM_011540339.1:c.2059G>A	XP_011538641.1:p.Val687Ile