Canonical Allele Identifier: CA5580161

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84214217C>T , CM000672.2:g.84214217C>T	GRCh38
NC_000010.10:g.85973973C>T , CM000672.1:g.85973973C>T	GRCh37
NC_000010.9:g.85963953C>T	NCBI36
NG_028034.1:g.24562C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.2176C>T MANE Select	NP_149091.1:p.Arg726Cys
ENST00000623527.4:c.2176C>T MANE Select	ENSP00000485478.1:p.Arg726Cys
NM_001171971.2:c.2040+869C>T	NP_001165442.1:n.2040+869C>T
NM_001171971.3:c.2040+869C>T	NP_001165442.1:n.2040+869C>T
NM_033100.3:c.2176C>T	NP_149091.1:p.Arg726Cys
ENST00000332904.7:c.2040+869C>T	ENSP00000331063.3:n.2040+869C>T
ENST00000372117.6:c.1391C>T
ENST00000459673.1:n.608C>T
ENST00000623399.1:c.211+869C>T
ENST00000623527.3:c.2176C>T	ENSP00000485478.1:p.Arg726Cys
XM_011540337.1:c.2350C>T	XP_011538639.1:p.Arg784Cys
XM_011540338.1:c.2214+869C>T	XP_011538640.1:n.2214+869C>T
XM_011540339.1:c.1729C>T	XP_011538641.1:p.Arg577Cys