Canonical Allele Identifier: CA5580206

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84214408G>A , CM000672.2:g.84214408G>A	GRCh38
NC_000010.10:g.85974164G>A , CM000672.1:g.85974164G>A	GRCh37
NC_000010.9:g.85964144G>A	NCBI36
NG_028034.1:g.24753G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.2367G>A MANE Select	NP_149091.1:p.Pro789=
ENST00000623527.4:c.2367G>A MANE Select	ENSP00000485478.1:p.Pro789=
NM_001171971.2:c.2040+1060G>A	NP_001165442.1:n.2040+1060G>A
NM_001171971.3:c.2040+1060G>A	NP_001165442.1:n.2040+1060G>A
NM_033100.3:c.2367G>A	NP_149091.1:p.Pro789=
ENST00000332904.7:c.2040+1060G>A	ENSP00000331063.3:n.2040+1060G>A
ENST00000372117.6:c.1582G>A
ENST00000459673.1:n.799G>A
ENST00000623399.1:c.211+1060G>A
ENST00000623527.3:c.2367G>A	ENSP00000485478.1:p.Pro789=
XM_011540337.1:c.2541G>A	XP_011538639.1:p.Pro847=
XM_011540338.1:c.2214+1060G>A	XP_011538640.1:n.2214+1060G>A
XM_011540339.1:c.1920G>A	XP_011538641.1:p.Pro640=