Canonical Allele Identifier: CA5580134

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84214080A>C , CM000672.2:g.84214080A>C	GRCh38
NC_000010.10:g.85973836A>C , CM000672.1:g.85973836A>C	GRCh37
NC_000010.9:g.85963816A>C	NCBI36
NG_028034.1:g.24425A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.2041-2A>C MANE Select	NP_149091.1:n.2041-2A>C
ENST00000623527.4:c.2041-2A>C MANE Select	ENSP00000485478.1:n.2041-2A>C
NM_001171971.2:c.2040+732A>C	NP_001165442.1:n.2040+732A>C
NM_001171971.3:c.2040+732A>C	NP_001165442.1:n.2040+732A>C
NM_033100.3:c.2041-2A>C	NP_149091.1:n.2041-2A>C
ENST00000332904.7:c.2040+732A>C	ENSP00000331063.3:n.2040+732A>C
ENST00000372117.6:c.1256-2A>C
ENST00000459673.1:n.473-2A>C
ENST00000622973.1:c.659-2A>C
ENST00000623399.1:c.211+732A>C
ENST00000623527.3:c.2041-2A>C	ENSP00000485478.1:n.2041-2A>C
XM_011540337.1:c.2215-2A>C	XP_011538639.1:n.2215-2A>C
XM_011540338.1:c.2214+732A>C	XP_011538640.1:n.2214+732A>C
XM_011540339.1:c.1594-2A>C	XP_011538641.1:n.1594-2A>C